Zoltan Kutalik

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304 publications

 
The role of gene expression on human sexual dimorphism: too early to call
Porcu Eleonora, Claringbould Annique, Lepik Kaido, Richardson Tom G., Santoni Federico A., Franke Lude, Reymond Alexandre, Kutalik Zoltán.
 
The impact of self-report inaccuracy in the UK Biobank and its interplay with selective participation.
Schoeler T., Pingault J.B., Kutalik Z. Nature human behaviour. Peer-reviewed.
Lipid disturbances induced by psychotropic drugs: clinical and genetic predictors for early worsening of lipid levels and new-onset dyslipidaemia in Swiss psychiatric samples.
Delacrétaz A., Sadler M., Gamma F., Preisig M., Richard-Lepouriel H., von Gunten A., Conus P., Plessen K.J., Kutalik Z., Eap C.B., 2024/12/05. BJPsych open, 10 (6) pp. e227. Peer-reviewed.
 
Identification of rare disease genes as drivers of common diseases through tissue-specific gene regulatory networks.
Bakker O.B., Claringbould A., Westra H.J., Wiersma H., Boulogne F., Võsa U., Urzúa-Traslaviña C.G., Mulcahy Symmons S., Zidan MMM, Sadler M.C. et al., 2024/12/04. Scientific reports, 14 (1) p. 30206. Peer-reviewed.
 
Psychotropic-induced weight gain and telomere length: results from a one-year longitudinal study and a large population-based cohort.
Piras M., Lin J., Sadler M.C., Ranjbar S., Grosu C., Laaboub N., Preisig M., Gamma F., Plessen K.J., von Gunten A. et al., 2024/11/15. Translational psychiatry, 14 (1) p. 471. Peer-reviewed.
Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs.
Auwerx C., Moix S., Kutalik Z., Reymond A., 2024/11/07. American journal of human genetics, 111 (11) pp. 2347-2361. Peer-reviewed.
The pleiotropic spectrum of proximal 16p11.2 CNVs.
Auwerx C., Kutalik Z., Reymond A., 2024/11/07. American journal of human genetics, 111 (11) pp. 2309-2346. Peer-reviewed.
 
Widespread natural selection on metabolite levels in humans.
Timasheva Y., Lepik K., Liska O., Papp B., Kutalik Z., 2024/09/20. Genome research, 34 (8) pp. 1121-1129. Peer-reviewed.
Breaking down causes, consequences, and mediating effects of telomere length variation on human health.
Moix S., Sadler M.C., Kutalik Z., Auwerx C., 2024/05/17. Genome biology, 25 (1) p. 125. Peer-reviewed.
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.
Keaton J.M., Kamali Z., Xie T., Vaez A., Williams A., Goleva S.B., Ani A., Evangelou E., Hellwege J.N., Yengo L. et al., 2024/05. Nature genetics, 56 (5) pp. 778-791. Peer-reviewed.
 
Leveraging large-scale biobank EHRs to enhance pharmacogenetics of cardiometabolic disease medications
Sadler Marie C., Apostolov Alexander, Cevallos Caterina, Ribeiro Diogo M., Altman Russ B., Kutalik Zoltán, 2024/04/07..
 
A Large-Scale Genome-Wide Study of Gene-Sleep Duration Interactions for Blood Pressure in 811,405 Individuals from Diverse Populations
Nagarajan Pavithra, Winkler Thomas W, Bentley Amy R, Miller Clint L, Kraja Aldi T, Schwander Karen, Lee Songmi, Wang Wenyi, Brown Michael R, Morrison John L et al., 2024/03/08..
DNA methylation may partly explain psychotropic drug-induced metabolic side effects: results from a prospective 1-month observational study.
Dubath C., Porcu E., Delacrétaz A., Grosu C., Laaboub N., Piras M., von Gunten A., Conus P., Plessen K.J., Kutalik Z. et al., 2024/02/28. Clinical epigenetics, 16 (1) p. 36. Peer-reviewed.
PheWAS-based clustering of Mendelian Randomisation instruments reveals distinct mechanism-specific causal effects between obesity and educational attainment.
Darrous L., Hemani G., Davey Smith G., Kutalik Z., 2024/02/15. Nature communications, 15 (1) p. 1420. Peer-reviewed.
 
Causality-enriched epigenetic age uncouples damage and adaptation.
Ying K., Liu H., Tarkhov A.E., Sadler M.C., Lu A.T., Moqri M., Horvath S., Kutalik Z., Shen X., Gladyshev V.N., 2024/02. Nature aging, 4 (2) pp. 231-246. Peer-reviewed.
Rare copy-number variants as modulators of common disease susceptibility.
Auwerx C., Jõeloo M., Sadler M.C., Tesio N., Ojavee S., Clark C.J., Mägi R., Estonian Biobank Research Team, Reymond A., Kutalik Z., 2024/01/08. Genome medicine, 16 (1) p. 5. Peer-reviewed.
Cannabis use and atherosclerotic cardiovascular disease: a Mendelian randomization study.
de La Harpe R., Schoeler T., Thorball C.W., Thomas A., Kutalik Z., Vaucher J., 2023/12/13. BMC cardiovascular disorders, 23 (1) p. 611. Peer-reviewed.
Genetic insights into the age-specific biological mechanisms governing human ovarian aging.
Ojavee S.E., Darrous L., Patxot M., Läll K., Fischer K., Mägi R., Kutalik Z., Robinson M.R., 2023/09/07. American journal of human genetics, 110 (9) pp. 1549-1563. Peer-reviewed.
Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease.
Hanssen R., Auwerx C., Jõeloo M., Sadler M.C., Estonian Biobank Research Team, Henning E., Keogh J., Bounds R., Smith M., Firth H.V. et al., 2023/08/15. Cell reports. Medicine, 4 (8) p. 101155. Peer-reviewed.
Multi-layered genetic approaches to identify approved drug targets.
Sadler M.C., Auwerx C., Deelen P., Kutalik Z., 2023/07/12. Cell genomics, 3 (7) p. 100341. Peer-reviewed.
 
Response to Bassett et al.
Zamariolli M., Auwerx C., Sadler M.C., van der Graaf A., Lepik K., Schoeler T., Moysés-Oliveira M., Dantas A.G., Melaragno M.I., Kutalik Z., 2023/07/06. American journal of human genetics, 110 (7) pp. 1219-1220. Peer-reviewed.
Participation bias in the UK Biobank distorts genetic associations and downstream analyses.
Schoeler T., Speed D., Porcu E., Pirastu N., Pingault J.B., Kutalik Z., 2023/07. Nature human behaviour, 7 (7) pp. 1216-1227. Peer-reviewed.
 
Author Correction: The power of genetic diversity in genome-wide association studies of lipids.
Graham S.E., Clarke S.L., Wu K.H., Kanoni S., Zajac GJM, Ramdas S., Surakka I., Ntalla I., Vedantam S., Winkler T.W. et al., 2023/06..
Bias correction for inverse variance weighting Mendelian randomization.
Mounier N., Kutalik Z., 2023/06. Genetic epidemiology, 47 (4) pp. 314-331. Peer-reviewed.
Identification of four novel loci associated with psychotropic drug-induced weight gain in a Swiss psychiatric longitudinal study: A GWAS analysis.
Sjaarda J., Delacrétaz A., Dubath C., Laaboub N., Piras M., Grosu C., Vandenberghe F., Crettol S., Ansermot N., Gamma F. et al., 2023/06. Molecular psychiatry, 28 (6) pp. 2320-2327. Peer-reviewed.
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.
Giannuzzi G., Chatron N., Mannik K., Auwerx C., Pradervand S., Willemin G., Hoekzema K., Nuttle X., Chrast J., Sadler M.C. et al., 2023/05/24. NPJ genomic medicine, 8 (1) p. 9. Peer-reviewed.
Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy.
Ollila H.M., Sharon E., Lin L., Sinnott-Armstrong N., Ambati A., Yogeshwar S.M., Hillary R.P., Jolanki O., Faraco J., Einen M. et al., 2023/05/15. Nature communications, 14 (1) p. 2709. Peer-reviewed.
Partner choice, confounding and trait convergence all contribute to phenotypic partner similarity.
Sjaarda J., Kutalik Z., 2023/05. Nature human behaviour, 7 (5) pp. 776-789. Peer-reviewed.
 
The genetic etiology of periodic limb movement in sleep.
Edelson J.L., Schneider L.D., Amar D., Brink-Kjaer A., Cederberg K.L., Kutalik Z., Hagen E.W., Peppard P.E., Tempaku P.F., Tufik S. et al., 2023/04/12. Sleep, 46 (4) pp. zsac121. Peer-reviewed.
Genetic insights into the causal relationship between physical activity and cognitive functioning.
Cheval B., Darrous L., Choi K.W., Klimentidis Y.C., Raichlen D.A., Alexander G.E., Cullati S., Kutalik Z., Boisgontier M.P., 2023/03/31. Scientific reports, 13 (1) p. 5310. Peer-reviewed.
Exploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations.
Auwerx C., Sadler M.C., Woh T., Reymond A., Kutalik Z., Porcu E., 2023/03/09. eLife, 12 pp. e81097. Peer-reviewed.
 
Novel Biological Insights Into the Common Heritable Liability to Substance Involvement: A Multivariate Genome-wide Association Study
Schoeler Tabea, Baldwin Jessie, Allegrini Andrea, Barkhuizen Wikus, McQuillin Andrew, Pirastu Nicola, Kutalik Zoltán, Pingault Jean-Baptiste, 2023/03. Biological Psychiatry, 93 (6) pp. 524-535. Peer-reviewed.
 
The impact of 22q11.2 copy-number variants on human traits in the general population.
Zamariolli M., Auwerx C., Sadler M.C., van der Graaf A., Lepik K., Schoeler T., Moysés-Oliveira M., Dantas A.G., Melaragno M.I., Kutalik Z., 2023/02/02. American journal of human genetics, 110 (2) pp. 300-313. Peer-reviewed.
Large scale phenotype imputation and in vivo functional validation implicate ADAMTS14 as an adiposity gene.
Kentistou K.A., Luan J., Wittemans LBL, Hambly C., Klaric L., Kutalik Z., Speakman J.R., Wareham N.J., Kendall T.J., Langenberg C. et al., 2023/01/19. Nature communications, 14 (1) p. 307. Peer-reviewed.
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
Kanoni S., Graham S.E., Wang Y., Surakka I., Ramdas S., Zhu X., Clarke S.L., Bhatti K.F., Vedantam S., Winkler T.W. et al., 2022/12/27. Genome biology, 23 (1) p. 268. Peer-reviewed.
 
Quantifying the role of transcript levels in mediating DNA methylation effects on complex traits and diseases.
Sadler M.C., Auwerx C., Lepik K., Porcu E., Kutalik Z., 2022/12/07. Nature communications, 13 (1) p. 7559. Peer-reviewed.
Gene set enrichment analysis of pathophysiological pathways highlights oxidative stress in psychosis.
Pistis G., Vázquez-Bourgon J., Fournier M., Jenni R., Cleusix M., Papiol S., Smart S.E., Pardiñas A.F., Walters JTR, MacCabe J.H. et al., 2022/12. Molecular psychiatry, 27 (12) pp. 5135-5143. Peer-reviewed.
 
Sphingolipids accumulate in aged muscle, and their reduction counteracts sarcopenia.
Laurila P.P., Wohlwend M., Imamura de Lima T., Luan P., Herzig S., Zanou N., Crisol B., Bou-Sleiman M., Porcu E., Gallart-Ayala H. et al., 2022/12. Nature aging, 2 (12) pp. 1159-1175. Peer-reviewed.
Parent-of-Origin inference for biobanks.
Hofmeister R.J., Rubinacci S., Ribeiro D.M., Buil A., Kutalik Z., Delaneau O., 2022/11/05. Nature communications, 13 (1) p. 6668. Peer-reviewed.
Liability-scale heritability estimation for biobank studies of low-prevalence disease.
Ojavee S.E., Kutalik Z., Robinson M.R., 2022/11/03. American journal of human genetics, 109 (11) pp. 2009-2017. Peer-reviewed.
Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associations.
Lepamets M., Auwerx C., Nõukas M., Claringbould A., Porcu E., Kals M., Jürgenson T., Estonian Biobank Research Team, Morris A.P., Võsa U. et al., 2022/10/13. HGG advances, 3 (4) p. 100133. Peer-reviewed.
A saturated map of common genetic variants associated with human height.
Yengo L., Vedantam S., Marouli E., Sidorenko J., Bartell E., Sakaue S., Graff M., Eliasen A.U., Jiang Y., Raghavan S. et al., 2022/10. Nature, 610 (7933) pp. 704-712. Peer-reviewed.
 
Sex- and age-dependent genetics of longevity in a heterogeneous mouse population.
Bou Sleiman M., Roy S., Gao A.W., Sadler M.C., von Alvensleben GVG, Li H., Sen S., Harrison D.E., Nelson J.F., Strong R. et al., 2022/09/30. Science, 377 (6614) pp. eabo3191. Peer-reviewed.
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention.
Wang Z., Emmerich A., Pillon N.J., Moore T., Hemerich D., Cornelis M.C., Mazzaferro E., Broos S., Ahluwalia T.S., Bartz T.M. et al., 2022/09. Nature genetics, 54 (9) pp. 1332-1344. Peer-reviewed.
Limited evidence for blood eQTLs in human sexual dimorphism.
Porcu E., Claringbould A., Weihs A., Lepik K., BIOS Consortium, Richardson T.G., Völker U., Santoni F.A., Teumer A., Franke L. et al., 2022/08/11. Genome medicine, 14 (1) p. 89. Peer-reviewed.
 
A cross-disorder dosage sensitivity map of the human genome.
Collins R.L., Glessner J.T., Porcu E., Lepamets M., Brandon R., Lauricella C., Han L., Morley T., Niestroj L.M., Ulirsch J. et al., 2022/08/04. Cell, 185 (16) pp. 3041-3055.e25. Peer-reviewed.
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.
Ramdas S., Judd J., Graham S.E., Kanoni S., Wang Y., Surakka I., Wenz B., Clarke S.L., Chesi A., Wells A. et al., 2022/08/04. American journal of human genetics, 109 (8) pp. 1366-1387. Peer-reviewed.
Haematological changes from conception to childbirth: An indicator of major pregnancy complications.
Patxot M., Stojanov M., Ojavee S.E., Pescini Gobert R., Kutalik Z., Gavillet M., Baud D., Robinson M.R., 2022/08. European journal of haematology, 109 (5) pp. 566-575. Peer-reviewed.
Improving polygenic prediction with genetically inferred ancestry.
Naret O., Kutalik Z., Hodel F., Xu Z.M., Marques-Vidal P., Fellay J., 2022/07/14. HGG advances, 3 (3) p. 100109. Peer-reviewed.
Polynomial Mendelian randomization reveals non-linear causal effects for obesity-related traits.
Sulc J., Sjaarda J., Kutalik Z., 2022/07/14. HGG advances, 3 (3) p. 100124. Peer-reviewed.
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.
Giannuzzi G., Chatron N., Mannik K., Auwerx C., Pradervand S., Willemin G., Hoekzema K., Nuttle X., Chrast J., Sadler M.C. et al., 2022/06/17. NPJ genomic medicine, 7 (1) p. 38. Peer-reviewed.
Using genetic variation to disentangle the complex relationship between food intake and health outcomes.
Pirastu N., McDonnell C., Grzeszkowiak E.J., Mounier N., Imamura F., Merino J., Day F.R., Zheng J., Taba N., Concas M.P. et al., 2022/06. PLoS genetics, 18 (6) pp. e1010162. Peer-reviewed.
 
From pharmacogenetics to pharmaco-omics: Milestones and future directions.
Auwerx C., Sadler M.C., Reymond A., Kutalik Z., 2022/04/14. HGG advances, 3 (2) p. 100100. Peer-reviewed.
 
The individual and global impact of copy-number variants on complex human traits.
Auwerx C., Lepamets M., Sadler M.C., Patxot M., Stojanov M., Baud D., Mägi R., Estonian Biobank Research Team, Porcu E., Reymond A. et al., 2022/04/07. American journal of human genetics, 109 (4) pp. 647-668. Peer-reviewed.
Simultaneous estimation of bi-directional causal effects and heritable confounding from GWAS summary statistics.
Darrous L., Mounier N., Kutalik Z., 2021/12/14. Nature communications, 12 (1) p. 7274. Peer-reviewed.
 
Mendelian randomization to assess causality between uromodulin, blood pressure and chronic kidney disease.
Ponte B., Sadler M.C., Olinger E., Vollenweider P., Bochud M., Padmanabhan S., Hayward C., Kutalik Z., Devuyst O., 2021/12. Kidney international, 100 (6) pp. 1282-1291. Peer-reviewed.
The power of genetic diversity in genome-wide association studies of lipids.
Graham S.E., Clarke S.L., Wu K.H., Kanoni S., Zajac GJM, Ramdas S., Surakka I., Ntalla I., Vedantam S., Winkler T.W. et al., 2021/12. Nature, 600 (7890) pp. 675-679. Peer-reviewed.
 
Probabilistic inference of the genetic architecture underlying functional enrichment of complex traits.
Patxot M., Banos D.T., Kousathanas A., Orliac E.J., Ojavee S.E., Moser G., Holloway A., Sidorenko J., Kutalik Z., Mägi R. et al., 2021/11/30. Nature communications, 12 (1) p. 6972. Peer-reviewed.
Untargeted Metabolome- and Transcriptome-Wide Association Study Suggests Causal Genes Modulating Metabolite Concentrations in Urine.
Sönmez Flitman R., Khalili B., Kutalik Z., Rueedi R., Brümmer A., Bergmann S., 2021/11/05. Journal of proteome research, 20 (11) pp. 5103-5114. Peer-reviewed.
Correction: Socio-economic position as a moderator of cardiometabolic outcomes in patients receiving psychotropic treatment associated with weight gain: results from a prospective 12-month inception cohort study and a large population-based cohort.
Dubath C., Gholam-Rezaee M., Sjaarda J., Levier A., Saigi-Morgui N., Delacrétaz A., Glatard A., Panczak R., Correll C.U., Solida A. et al., 2021/10/07..
Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome.
Porcu E., Sadler M.C., Lepik K., Auwerx C., Wood A.R., Weihs A., Sleiman MSB, Ribeiro D.M., Bandinelli S., Tanaka T. et al., 2021/09/24. Nature communications, 12 (1) p. 5647. Peer-reviewed.
Composite trait Mendelian randomization reveals distinct metabolic and lifestyle consequences of differences in body shape.
Sulc J., Sonrel A., Mounier N., Auwerx C., Marouli E., Darrous L., Draganski B., Kilpeläinen T.O., Joshi P., Loos RJF et al., 2021/09/13. Communications biology, 4 (1) p. 1064. Peer-reviewed.
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression.
Võsa U., Claringbould A., Westra H.J., Bonder M.J., Deelen P., Zeng B., Kirsten H., Saha A., Kreuzhuber R., Yazar S. et al., 2021/09. Nature genetics, 53 (9) pp. 1300-1310. Peer-reviewed.
 
Genetic insights into biological mechanisms governing human ovarian ageing.
Ruth K.S., Day F.R., Hussain J., Martínez-Marchal A., Aiken C.E., Azad A., Thompson D.J., Knoblochova L., Abe H., Tarry-Adkins J.L. et al., 2021/08. Nature, 596 (7872) pp. 393-397. Peer-reviewed.
HSD17B7 gene in self-renewal and oncogenicity of keratinocytes from Black versus White populations.
Xu X., Tassone B., Ostano P., Katarkar A., Proust T., Joseph J.M., Riganti C., Chiorino G., Kutalik Z., Lefort K. et al., 2021/07/07. EMBO molecular medicine, 13 (7) pp. e14133. Peer-reviewed.
Socio-economic position as a moderator of cardiometabolic outcomes in patients receiving psychotropic treatment associated with weight gain: results from a prospective 12-month inception cohort study and a large population-based cohort.
Dubath C., Gholam-Rezaee M., Sjaarda J., Levier A., Saigi-Morgui N., Delacrétaz A., Glatard A., Panczak R., Correll C.U., Solida A. et al., 2021/06/26. Translational psychiatry, 11 (1) p. 360. Peer-reviewed.
The trans-ancestral genomic architecture of glycemic traits.
Chen J., Spracklen C.N., Marenne G., Varshney A., Corbin L.J., Luan J., Willems S.M., Wu Y., Zhang X., Horikoshi M. et al., 2021/06. Nature genetics, 53 (6) pp. 840-860. Peer-reviewed.
 
Causal Inference Methods to Integrate Omics and Complex Traits.
Porcu E., Sjaarda J., Lepik K., Carmeli C., Darrous L., Sulc J., Mounier N., Kutalik Z., 2021/05/03. Cold Spring Harbor perspectives in medicine, 11 (5) pp. a040493. Peer-reviewed.
Genome-wide association study of circulating interleukin 6 levels identifies novel loci.
Ahluwalia T.S., Prins B.P., Abdollahi M., Armstrong N.J., Aslibekyan S., Bain L., Jefferis B., Baumert J., Beekman M., Ben-Shlomo Y. et al., 2021/04/27. Human molecular genetics, 30 (5) pp. 393-409. Peer-reviewed.
Genomic architecture and prediction of censored time-to-event phenotypes with a Bayesian genome-wide analysis.
Ojavee S.E., Kousathanas A., Trejo Banos D., Orliac E.J., Patxot M., Läll K., Mägi R., Fischer K., Kutalik Z., Robinson M.R., 2021/04/20. Nature communications, 12 (1) p. 2337. Peer-reviewed.
Triangulating evidence from longitudinal and Mendelian randomization studies of metabolomic biomarkers for type 2 diabetes.
Porcu E., Gilardi F., Darrous L., Yengo L., Bararpour N., Gasser M., Marques-Vidal P., Froguel P., Waeber G., Thomas A. et al., 2021/03/18. Scientific reports, 11 (1) p. 6197. Peer-reviewed.
Gene regulation contributes to explain the impact of early life socioeconomic disadvantage on adult inflammatory levels in two cohort studies.
Carmeli C., Kutalik Z., Mishra P.P., Porcu E., Delpierre C., Delaneau O., Kelly-Irving M., Bochud M., Dhayat N.A., Ponte B. et al., 2021/02/04. Scientific reports, 11 (1) p. 3100. Peer-reviewed.
Obesity and atypical depression symptoms: findings from Mendelian randomization in two European cohorts.
Pistis G., Milaneschi Y., Vandeleur C.L., Lasserre A.M., Penninx BWJH, Lamers F., Boomsma D.I., Hottenga J.J., Marques-Vidal P., Vollenweider P. et al., 2021/02/04. Translational psychiatry, 11 (1) p. 96. Peer-reviewed.
Genome-wide association study identifies 48 common genetic variants associated with handedness.
Cuellar-Partida G., Tung J.Y., Eriksson N., Albrecht E., Aliev F., Andreassen O.A., Barroso I., Beckmann J.S., Boks M.P., Boomsma D.I. et al., 2021/01. Nature human behaviour, 5 (1) pp. 59-70. Peer-reviewed.
 
Novel insights into the common heritable liability to addiction: a multivariate genome-wide association study
Schoeler Tabea, Baldwin Jessie, Allegrini Andrea, Barkhuizen Wikus, McQuillin Andrew, Pirastu Nicola, Kutalik Zoltán, Pingault Jean-Baptiste, 2021..
 
Parent-of-origin effects in the UK Biobank
Hofmeister R. J., Rubinacci S., Ribeiro D. M., Kutalik Z., Buil A., Delaneau O., 2021..
 
Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity.
Yaghootkar H., Zhang Y., Spracklen C.N., Karaderi T., Huang L.O., Bradfield J., Schurmann C., Fine R.S., Preuss M.H., Kutalik Z. et al., 2020/12. Diabetes, 69 (12) pp. 2806-2818. Peer-reviewed.
Identification of metabolomics biomarkers for type 2 diabetes: triangulating evidence from longitudinal and Mendelian randomization analyses
Porcu E., Gilardi F., Darrous L., Yengo L., Bararpour N., Gasser M., Vidal PM, Froguel P., Waeber G., Thomas A. et al., 2020/10/30..
 
Genetic comorbidity between major depression and cardio-metabolic traits, stratified by age at onset of major depression.
Hagenaars S.P., Coleman JRI, Choi S.W., Gaspar H., Adams M.J., Howard D.M., Hodgson K., Traylor M., Air T.M., Andlauer TFM et al., 2020/09. American journal of medical genetics. Part B, Neuropsychiatric genetics, 183 (6) pp. 309-330. Peer-reviewed.
bGWAS: an R package to perform Bayesian genome wide association studies.
Mounier N., Kutalik Z., 2020/08/01. Bioinformatics, 36 (15) pp. 4374-4376. Peer-reviewed.
 
Commentary on: "The contribution of tissue-specific BMI-associated gene sets to cardiometabolic disease risk: a Mendelian randomization study".
Kutalik Z., 2020/08/01. International journal of epidemiology, 49 (4) pp. 1257-1258. Peer-reviewed.
 
Using instrumental variables to estimate the attributable fraction.
Dahlqwist E., Kutalik Z., Sjölander A., 2020/08. Statistical methods in medical research, 29 (8) pp. 2063-2073. Peer-reviewed.
Genome-wide gene-environment analyses of major depressive disorder and reported lifetime traumatic experiences in UK Biobank.
Coleman JRI, Peyrot W.J., Purves K.L., Davis KAS, Rayner C., Choi S.W., Hübel C., Gaspar H.A., Kan C., Van der Auwera S. et al., 2020/07. Molecular psychiatry, 25 (7) pp. 1430-1446. Peer-reviewed.
 
Weight Loss Directly Influences Intermediate-Term Remission of Diabetes Mellitus After Bariatric Surgery: A Retrospective Case-Control Study.
de La Harpe R., Rüeger S., Kutalik Z., Ballabeni P., Suter M., Vionnet N., Laferrère B., Pralong F., 2020/04. Obesity surgery, 30 (4) pp. 1332-1338. Peer-reviewed.
Quantification of the overall contribution of gene-environment interaction for obesity-related traits.
Sulc J., Mounier N., Günther F., Winkler T., Wood A.R., Frayling T.M., Heid I.M., Robinson M.R., Kutalik Z., 2020/03/13. Nature communications, 11 (1) p. 1385. Peer-reviewed.
 
Influence of Genetic Ancestry on Human Serum Proteome.
Sjaarda J., Gerstein H.C., Kutalik Z., Mohammadi-Shemirani P., Pigeyre M., Hess S., Paré G., 2020/03/05. American journal of human genetics, 106 (3) pp. 303-314. Peer-reviewed.
Classical Human Leukocyte Antigen Alleles and C4 Haplotypes Are Not Significantly Associated With Depression.
Glanville K.P., Coleman JRI, Hanscombe K.B., Euesden J., Choi S.W., Purves K.L., Breen G., Air T.M., Andlauer TFM, Baune B.T. et al., 2020/03/01. Biological psychiatry, 87 (5) pp. 419-430. Peer-reviewed.
FADS3 is a Δ14Z sphingoid base desaturase that contributes to gender differences in the human plasma sphingolipidome.
Karsai G., Lone M., Kutalik Z., Brenna J.T., Li H., Pan D., von Eckardstein A., Hornemann T., 2020/02/14. The Journal of biological chemistry, 295 (7) pp. 1889-1897. Peer-reviewed.
 
Heterogeneity in Obesity: Genetic Basis and Metabolic Consequences.
Sulc J., Winkler T.W., Heid I.M., Kutalik Z., 2020/01/22. Current diabetes reports, 20 (1) p. 1. Peer-reviewed.
 
rs34567942 a Novel Susceptibility Single Nucleotide Polymorphism for Cutaneous Squamous Cell Carcinoma in Organ Transplant Recipients.
Kuzmanov A., Qi W., Stenz N., Bochud P.Y., Kutalik Z., Wojtowicz A., Hofbauer G., 2019/12/01. Acta dermato-venereologica, 99 (13) pp. 1303-1304. Peer-reviewed.
 
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.
Giannuzzi G., Schmidt P.J., Porcu E., Willemin G., Munson K.M., Nuttle X., Earl R., Chrast J., Hoekzema K., Risso D. et al., 2019/11/07. American journal of human genetics, 105 (5) pp. 947-958. Peer-reviewed.
 
Early life socioeconomic position and adult systemic inflammation: the role of gene regulation
Carmeli C., Kutalik Z., Kelly-Irving M., Delpierre C., Bochud M., Kivimaki M., Vineis P., Chadeau-Hyam M., Dermitzakis E., Stringhini S., 2019/11., 12th European Public Health Conference Building bridges for solidarity and public health Marseille, France 20th–23rd November 2019 p. 88 dans European Journal of Public Health.
 
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals
Giannuzzi Giuliana, Schmidt Paul J., Porcu Eleonora, Willemin Gilles, Munson Katherine M., Nuttle Xander, Earl Rachel, Chrast Jacqueline, Hoekzema Kendra, Risso Davide et al., 2019/11. The American Journal of Human Genetics, 105 (5) pp. 947-958.
Associations of autozygosity with a broad range of human phenotypes.
Clark D.W., Okada Y., Moore KHS, Mason D., Pirastu N., Gandin I., Mattsson H., Barnes CLK, Lin K., Zhao J.H. et al., 2019/10/31. Nature communications, 10 (1) p. 4957. Peer-reviewed.
 
A Five-Decision Testing Procedure to Infer the Value of a Unidimensional Parameter
McDaid Aaron, Kutalik Zoltán, Rousson Valentin, 2019/10/02. The American Statistician, 73 (4) pp. 321-326.
Assessment of network module identification across complex diseases.
Choobdar S., Ahsen M.E., Crawford J., Tomasoni M., Fang T., Lamparter D., Lin J., Hescott B., Hu X., Mercer J. et al., 2019/09. Nature methods, 16 (9) pp. 843-852. Peer-reviewed.
 
A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure.
Sung Y.J., de Las Fuentes L., Winkler T.W., Chasman D.I., Bentley A.R., Kraja A.T., Ntalla I., Warren H.R., Guo X., Schwander K. et al., 2019/08/01. Human molecular genetics, 28 (15) pp. 2615-2633. Peer-reviewed.
Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits.
Porcu E., Rüeger S., Lepik K., eQTLGen Consortium, BIOS Consortium, Santoni F.A., Reymond A., Kutalik Z., 2019/07/24. Nature communications, 10 (1) p. 3300. Peer-reviewed.
 
Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology.
Spracklen C.N., Karaderi T., Yaghootkar H., Schurmann C., Fine R.S., Kutalik Z., Preuss M.H., Lu Y., Wittemans LBL, Adair L.S. et al., 2019/07/03. American journal of human genetics, 105 (1) pp. 15-28. Peer-reviewed.
Cross-species functional modules link proteostasis to human normal aging.
Komljenovic A., Li H., Sorrentino V., Kutalik Z., Auwerx J., Robinson-Rechavi M., 2019/07. PLoS computational biology, 15 (7) pp. e1007162. Peer-reviewed.
Genome-wide Association Study of Change in Fasting Glucose over time in 13,807 non-diabetic European Ancestry Individuals.
Liu C.T., Merino J., Rybin D., DiCorpo D., Benke K.S., Bragg-Gresham J.L., Canouil M., Corre T., Grallert H., Isaacs A. et al., 2019/07/01. Scientific reports, 9 (1) p. 9439. Peer-reviewed.
 
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Turcot V., Lu Y., Highland H.M., Schurmann C., Justice A.E., Fine R.S., Bradfield J.P., Esko T., Giri A., Graff M. et al., 2019/07..
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.
Nikopoulos K., Cisarova K., Quinodoz M., Koskiniemi-Kuendig H., Miyake N., Farinelli P., Rehman A.U., Khan M.I., Prunotto A., Akiyama M. et al., 2019/06/28. Nature communications, 10 (1) p. 2884. Peer-reviewed.
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.
Warrington N.M., Beaumont R.N., Horikoshi M., Day F.R., Helgeland Ø., Laurin C., Bacelis J., Peng S., Hao K., Feenstra B. et al., 2019/05. Nature genetics, 51 (5) pp. 804-814. Peer-reviewed.
Genetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour.
Jones S.E., van Hees V.T., Mazzotti D.R., Marques-Vidal P., Sabia S., van der Spek A., Dashti H.S., Engmann J., Kocevska D., Tyrrell J. et al., 2019/04/05. Nature communications, 10 (1) p. 1585. Peer-reviewed.
 
Dysregulation of a long noncoding RNA reduces leptin leading to a leptin-responsive form of obesity.
Dallner O.S., Marinis J.M., Lu Y.H., Birsoy K., Werner E., Fayzikhodjaeva G., Dill B.D., Molina H., Moscati A., Kutalik Z. et al., 2019/03. Nature medicine, 25 (3) pp. 507-516. Peer-reviewed.
 
Identification of common genetic risk variants for autism spectrum disorder.
Grove J., Ripke S., Als T.D., Mattheisen M., Walters R.K., Won H., Pallesen J., Agerbo E., Andreassen O.A., Anney R. et al., 2019/03. Nature genetics, 51 (3) pp. 431-444. Peer-reviewed.
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.
Justice A.E., Karaderi T., Highland H.M., Young K.L., Graff M., Lu Y., Turcot V., Auer P.L., Fine R.S., Guo X. et al., 2019/03. Nature genetics, 51 (3) pp. 452-469. Peer-reviewed.
 
Disentangling the genetics of lean mass.
Karasik D., Zillikens M.C., Hsu Y.H., Aghdassi A., Akesson K., Amin N., Barroso I., Bennett D.A., Bertram L., Bochud M. et al., 2019/02/01. The American journal of clinical nutrition, 109 (2) pp. 276-287. Peer-reviewed.
 
Genetic and clinic predictors of new onset diabetes mellitus after transplantation.
Saigi-Morgui N., Quteineh L., Bochud P.Y., Crettol S., Kutalik Z., Mueller N.J., Binet I., Van Delden C., Steiger J., Mohacsi P. et al., 2019/02. The pharmacogenomics journal, 19 (1) pp. 53-64. Peer-reviewed.
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.
Karlsson Linnér R., Biroli P., Kong E., Meddens SFW, Wedow R., Fontana M.A., Lebreton M., Tino S.P., Abdellaoui A., Hammerschlag A.R. et al., 2019/02. Nature genetics, 51 (2) pp. 245-257. Peer-reviewed.
Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.
Kilpeläinen T.O., Bentley A.R., Noordam R., Sung Y.J., Schwander K., Winkler T.W., Jakupović H., Chasman D.I., Manning A., Ntalla I. et al., 2019/01/22. Nature communications, 10 (1) p. 376. Peer-reviewed.
Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances.
Timmers P.R., Mounier N., Lall K., Fischer K., Ning Z., Feng X., Bretherick A.D., Clark D.W., eQTLGen Consortium, Agbessi M. et al., 2019/01/15. eLife, 8 pp. e39856. Peer-reviewed.
Genetic immune and inflammatory markers associated with diabetes in solid organ transplant recipients.
Quteineh L., Wójtowicz A., Bochud P.Y., Crettol S., Vandenberghe F., Venetz J.P., Manuel O., Golshayan D., Lehmann R., Mueller N.J. et al., 2019/01. American journal of transplantation, 19 (1) pp. 238-246. Peer-reviewed.
Guidelines for performing Mendelian randomization investigations: update for summer 2023.
Burgess S., Davey Smith G., Davies N.M., Dudbridge F., Gill D., Glymour M.M., Hartwig F.P., Kutalik Z., Holmes M.V., Minelli C. et al., 2019. Wellcome open research, 4 p. 186. Peer-reviewed.
Mendelian randomisation analyses find pulmonary factors mediate the effect of height on coronary artery disease.
Marouli E., Del Greco M.F., Astley C.M., Yang J., Ahmad S., Berndt S.I., Caulfield M.J., Evangelou E., McKnight B., Medina-Gomez C. et al., 2019. Communications biology, 2 p. 119. Peer-reviewed.
 
Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
Evangelou E., Warren H.R., Mosen-Ansorena D., Mifsud B., Pazoki R., Gao H., Ntritsos G., Dimou N., Cabrera C.P., Karaman I. et al., 2018/12..
 
Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.
Ligthart S., Vaez A., Võsa U., Stathopoulou M.G., de Vries P.S., Prins B.P., Van der Most P.J., Tanaka T., Naderi E., Rose L.M. et al., 2018/11/01. American journal of human genetics, 103 (5) pp. 691-706. Peer-reviewed.
Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels.
Tin A., Li Y., Brody J.A., Nutile T., Chu A.Y., Huffman J.E., Yang Q., Chen M.H., Robinson-Cohen C., Macé A. et al., 2018/10/12. Nature communications, 9 (1) p. 4228. Peer-reviewed.
 
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
Evangelou E., Warren H.R., Mosen-Ansorena D., Mifsud B., Pazoki R., Gao H., Ntritsos G., Dimou N., Cabrera C.P., Karaman I. et al., 2018/10. Nature genetics, 50 (10) pp. 1412-1425. Peer-reviewed.
Addendum: A joint view on genetic variants for adiposity differentiates subtypes with distinct metabolic implications.
Winkler T.W., Günther F., Höllerer S., Zimmermann M., Loos R.J., Kutalik Z., Heid I.M., 2018/07/20. Nature communications, 9 (1) p. 2861. Peer-reviewed.
A joint view on genetic variants for adiposity differentiates subtypes with distinct metabolic implications.
Winkler T.W., Günther F., Höllerer S., Zimmermann M., Loos R.J., Kutalik Z., Heid I.M., 2018/05/16. Nature communications, 9 (1) p. 1946. Peer-reviewed.
Evaluation and application of summary statistic imputation to discover new height-associated loci.
Rüeger S., McDaid A., Kutalik Z., 2018/05. PLoS genetics, 14 (5) pp. e1007371. Peer-reviewed.
Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.
Wray N.R., Ripke S., Mattheisen M., Trzaskowski M., Byrne E.M., Abdellaoui A., Adams M.J., Agerbo E., Air T.M., Andlauer TMF et al., 2018/05. Nature genetics, 50 (5) pp. 668-681. Peer-reviewed.
 
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Turcot V., Lu Y., Highland H.M., Schurmann C., Justice A.E., Fine R.S., Bradfield J.P., Esko T., Giri A., Graff M. et al., 2018/05..
Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men.
Chen H., Cade B.E., Gleason K.J., Bjonnes A.C., Stilp A.M., Sofer T., Conomos M.P., Ancoli-Israel S., Arens R., Azarbarzin A. et al., 2018/03. American journal of respiratory cell and molecular biology, 58 (3) pp. 391-401. Peer-reviewed.
The protocadherin 17 gene affects cognition, personality, amygdala structure and function, synapse development and risk of major mood disorders.
Chang H., Hoshina N., Zhang C., Ma Y., Cao H., Wang Y., Wu D.D., Bergen S.E., Landén M., Hultman C.M. et al., 2018/02. Molecular psychiatry, 23 (2) pp. 400-412. Peer-reviewed.
 
An Integrated Systems Genetics and Omics Toolkit to Probe Gene Function.
Li H., Wang X., Rukina D., Huang Q., Lin T., Sorrentino V., Zhang H., Bou Sleiman M., Arends D., McDaid A. et al., 2018/01/24. Cell systems, 6 (1) pp. 90-102.e4. Peer-reviewed.
 
Copy Number Variation
Macé Aurélien, Kutalik Zoltán, Valsesia Armand, 2018. pp. 231-258 dans Methods in Molecular Biology chap. 14, Springer New York.
 
Genome-Wide Meta-Analysis Unravels Interactions between Magnesium Homeostasis and Metabolic Phenotypes.
Corre T., Arjona F.J., Hayward C., Youhanna S., de Baaij JHF, Belge H., Nägele N., Debaix H., Blanchard M.G., Traglia M. et al., 2018/01. Journal of the American Society of Nephrology, 29 (1) pp. 335-348. Peer-reviewed.
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
Feitosa M.F., Kraja A.T., Chasman D.I., Sung Y.J., Winkler T.W., Ntalla I., Guo X., Franceschini N., Cheng C.Y., Sim X. et al., 2018. PloS one, 13 (6) pp. e0198166. Peer-reviewed.
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Turcot V., Lu Y., Highland H.M., Schurmann C., Justice A.E., Fine R.S., Bradfield J.P., Esko T., Giri A., Graff M. et al., 2018/01. Nature genetics, 50 (1) pp. 26-41. Peer-reviewed.
Common variants at 2q11.2, 8q21.3, and 11q13.2 are associated with major mood disorders.
Xiao X., Wang L., Wang C., Yuan T.F., Zhou D., Zheng F., Li L., Grigoroiu-Serbanescu M., Ikeda M., Iwata N. et al., 2017/12/11. Translational psychiatry, 7 (12) p. 1273. Peer-reviewed.
Impact of CD14 Polymorphisms on Anti-Apolipoprotein A-1 IgG-Related Coronary Artery Disease Prediction in the General Population.
Antiochos P., Marques-Vidal P., Virzi J., Pagano S., Satta N., Hartley O., Montecucco F., Mach F., Kutalik Z., Waeber G. et al., 2017/12. Arteriosclerosis, thrombosis, and vascular biology, 37 (12) pp. 2342-2349. Peer-reviewed.
Metabomatching: Using genetic association to identify metabolites in proton NMR spectroscopy.
Rueedi R., Mallol R., Raffler J., Lamparter D., Friedrich N., Vollenweider P., Waeber G., Kastenmüller G., Kutalik Z., Bergmann S., 2017/12. PLoS computational biology, 13 (12) pp. e1005839. Peer-reviewed.
 
Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.
Zillikens M.C., Demissie S., Hsu Y.H., Yerges-Armstrong L.M., Chou W.C., Stolk L., Livshits G., Broer L., Johnson T., Koller D.L. et al., 2017/11/07..
Genome-wide meta-analysis associates HLA-DQA1/DRB1 and LPA and lifestyle factors with human longevity.
Joshi P.K., Pirastu N., Kentistou K.A., Fischer K., Hofer E., Schraut K.E., Clark D.W., Nutile T., Barnes CLK, Timmers PRHJ et al., 2017/10/13. Nature communications, 8 (1) p. 910. Peer-reviewed.
 
A systematic review and meta-analysis of HCV clearance.
Gauthiez E., Habfast-Robertson I., Rüeger S., Kutalik Z., Aubert V., Berg T., Cerny A., Gorgievski M., George J., Heim M.H. et al., 2017/10. Liver international, 37 (10) pp. 1431-1445. Peer-reviewed.
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.
Macé A., Tuke M.A., Deelen P., Kristiansson K., Mattsson H., Nõukas M., Sapkota Y., Schick U., Porcu E., Rüeger S. et al., 2017/09/29. Nature communications, 8 (1) p. 744. Peer-reviewed.
 
An Analysis of Two Genome-wide Association Meta-analyses Identifies a New Locus for Broad Depression Phenotype.
Direk N., Williams S., Smith J.A., Ripke S., Air T., Amare A.T., Amin N., Baune B.T., Bennett D.A., Blackwood DHR et al., 2017/09/01. Biological psychiatry, 82 (5) pp. 322-329. Peer-reviewed.
C-reactive protein upregulates the whole blood expression of CD59 - an integrative analysis.
Lepik K., Annilo T., Kukuškina V., eQTLGen Consortium, Kisand K., Kutalik Z., Peterson P., Peterson H., 2017/09. PLoS computational biology, 13 (9) pp. e1005766. Peer-reviewed.
 
Anti-apolipoprotein A-1 IgG predict all-cause mortality and are associated with FCRL3 polymorphisms.
Antiochos Panagiotis (eds.), 2017/08., 263.
Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.
Graff M., Scott R.A., Justice A.E., Young K.L., Feitosa M.F., Barata L., Winkler T.W., Chu A.Y., Mahajan A., Hadley D. et al., 2017/08..
 
Impact of CD14 polymorphisms on anti-apolipoprotein A-1 IGG-related coronary heart disease prediction in the general population.
Antiochos P., Marques-Vidal P., Virzi J., Pagano S., Satta N., Hartley O., Montecucco F., Mach F., Kutalik Z., Waeber G. et al., 2017/08. pp. e45 dans Atherosclerosis. Peer-reviewed.
Interaction between the FTO gene, body mass index and depression: meta-analysis of 13701 individuals.
Rivera M., Locke A.E., Corre T., Czamara D., Wolf C., Ching-Lopez A., Milaneschi Y., Kloiber S., Cohen-Woods S., Rucker J. et al., 2017/08. The British journal of psychiatry, 211 (2) pp. 70-76. Peer-reviewed.
 
NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality.
Böger C.A., Gorski M., McMahon G.M., Xu H., Chang Y.C., van der Most P.J., Navis G., Nolte I.M., de Borst M.H., Zhang W. et al., 2017/08. Journal of the American Society of Nephrology, 28 (8) pp. 2311-2321. Peer-reviewed.
SQC: secure quality control for meta-analysis of genome-wide association studies.
Huang Z., Lin H., Fellay J., Kutalik Z., Hubaux J.P., 2017/08/01. Bioinformatics, 33 (15) pp. 2273-2280. Peer-reviewed.
Bayesian association scan reveals loci associated with human lifespan and linked biomarkers.
McDaid A.F., Joshi P.K., Porcu E., Komljenovic A., Li H., Sorrentino V., Litovchenko M., Bevers RPJ, Rüeger S., Reymond A. et al., 2017/07/27. Nature communications, 8 p. 15842. Peer-reviewed.
 
Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.
Wain L.V., Vaez A., Jansen R., Joehanes R., van der Most P.J., Erzurumluoglu A.M., O'Reilly P.F., Cabrera C.P., Warren H.R., Rose L.M. et al., 2017/07/24. Hypertension, 70 (3) pp. E4. Peer-reviewed.
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.
Zillikens M.C., Demissie S., Hsu Y.H., Yerges-Armstrong L.M., Chou W.C., Stolk L., Livshits G., Broer L., Johnson T., Koller D.L. et al., 2017/07/19. Nature communications, 8 (1) p. 80. Peer-reviewed.
 
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.
Day F.R., Thompson D.J., Helgason H., Chasman D.I., Finucane H., Sulem P., Ruth K.S., Whalen S., Sarkar A.K., Albrecht E. et al., 2017/06. Nature genetics, 49 (6) pp. 834-841. Peer-reviewed.
Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.
Gorski M., Most PJV, Teumer A., Chu A.Y., Li M., Mijatovic V., Nolte I.M., Cocca M., Taliun D., Gomez F. et al., 2017/05/26. Scientific reports, 7 p. 46835.
1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.
Gorski M., van der Most P.J., Teumer A., Chu A.Y., Li M., Mijatovic V., Nolte I.M., Cocca M., Taliun D., Gomez F. et al., 2017/04/28. Scientific reports, 7 p. 45040. Peer-reviewed.
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
Justice A.E., Winkler T.W., Feitosa M.F., Graff M., Fisher V.A., Young K., Barata L., Deng X., Czajkowski J., Hadley D. et al., 2017/04/26. Nature communications, 8 p. 14977. Peer-reviewed.
Gene-obesogenic environment interactions in the UK Biobank study.
Tyrrell J., Wood A.R., Ames R.M., Yaghootkar H., Beaumont R.N., Jones S.E., Tuke M.A., Ruth K.S., Freathy R.M., Davey Smith G. et al., 2017/04/01. International journal of epidemiology, 46 (2) pp. 559-575. Peer-reviewed.
Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.
Warren H.R., Evangelou E., Cabrera C.P., Gao H., Ren M., Mifsud B., Ntalla I., Surendran P., Liu C., Cook J.P. et al., 2017/04. Nature genetics, 49 (3) pp. 403-415. Peer-reviewed.
Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.
Graff M., Scott R.A., Justice A.E., Young K.L., Feitosa M.F., Barata L., Winkler T.W., Chu A.Y., Mahajan A., Hadley D. et al., 2017/04. PLoS genetics, 13 (4) pp. e1006528. Peer-reviewed.
Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness.
Heilmann-Heimbach S., Herold C., Hochfeld L.M., Hillmer A.M., Nyholt D.R., Hecker J., Javed A., Chew E.G., Pechlivanis S., Drichel D. et al., 2017/03/08. Nature communications, 8 p. 14694. Peer-reviewed.
Quantifying the extent to which index event biases influence large genetic association studies.
Yaghootkar H., Bancks M.P., Jones S.E., McDaid A., Beaumont R., Donnelly L., Wood A.R., Campbell A., Tyrrell J., Hocking L.J. et al., 2017/03/01. Human molecular genetics, 26 (5) pp. 1018-1030. Peer-reviewed.
cis-Acting Complex-Trait-Associated lincRNA Expression Correlates with Modulation of Chromosomal Architecture.
Tan J.Y., Smith AAT, Ferreira da Silva M., Matthey-Doret C., Rueedi R., Sönmez R., Ding D., Kutalik Z., Bergmann S., Marques A.C., 2017/02/28. Cell reports, 18 (9) pp. 2280-2288. Peer-reviewed.
Genome-wide Association for Major Depression Through Age at Onset Stratification: Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium.
Power R.A., Tansey K.E., Buttenschøn H.N., Cohen-Woods S., Bigdeli T., Hall L.S., Kutalik Z., Lee S.H., Ripke S., Steinberg S. et al., 2017/02/15. Biological psychiatry, 81 (4) pp. 325-335. Peer-reviewed.
Rare and low-frequency coding variants alter human adult height.
Marouli E., Graff M., Medina-Gomez C., Lo K.S., Wood A.R., Kjaer T.R., Fine R.S., Lu Y., Schurmann C., Highland H.M. et al., 2017/02/09. Nature, 542 (7640) pp. 186-190. Peer-reviewed.
Anti-Apolipoprotein A-1 IgG Predict All-Cause Mortality and Are Associated with Fc Receptor-Like 3 Polymorphisms.
Antiochos P., Marques-Vidal P., Virzi J., Pagano S., Satta N., Hartley O., Montecucco F., Mach F., Kutalik Z., Waeber G. et al., 2017. Frontiers in immunology, 8 p. 437. Peer-reviewed.
Approaches to detect genetic effects that differ between two strata in genome-wide meta-analyses: Recommendations based on a systematic evaluation.
Winkler T.W., Justice A.E., Cupples L.A., Kronenberg F., Kutalik Z., Heid I.M., GIANT consortium, 2017. PloS one, 12 (7) pp. e0181038. Peer-reviewed.
 
Association of genetic risk scores with body mass index in Swiss psychiatric cohorts
Saigi-Morgui Nuria, Vandenberghe Frederik, Delacrétaz Aurélie, Quteineh Lina, Gholamrezaee Mehdi, Kutalik Zoltan, Aubry Jean Michel, von Gunten Armin, Conus Philippe, Eap Chin B., 2017., 23rd Annual world congress of Psychiatric Genetics (WCPG), Toronto, Canada pp. S248 dans European Neuropsychopharmacology, Elsevier BV.
CRTC2 polymorphism as a risk factor for the incidence of metabolic syndrome in patients with solid organ transplantation.
Quteineh L., Bochud P.Y., Golshayan D., Crettol S., Venetz J.P., Manuel O., Kutalik Z., Treyer A., Lehmann R., Mueller N.J. et al., 2017/01. The pharmacogenomics journal, 17 (1) pp. 69-75. Peer-reviewed.
Genome-Wide Association between Transcription Factor Expression and Chromatin Accessibility Reveals Regulators of Chromatin Accessibility.
Lamparter D., Marbach D., Rueedi R., Bergmann S., Kutalik Z., 2017/01. PLoS computational biology, 13 (1) pp. e1005311. Peer-reviewed.
Risk prediction of developing venous thrombosis in combined oral contraceptive users.
McDaid A., Logette E., Buchillier V., Muriset M., Suchon P., Pache T.D., Tanackovic G., Kutalik Z., Michaud J., 2017. PloS one, 12 (7) pp. e0182041. Peer-reviewed.
 
KLB is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference.
Schumann G., Liu C., O'Reilly P., Gao H., Song P., Xu B., Ruggeri B., Amin N., Jia T., Preis S. et al., 2016/12/13. Proceedings of the National Academy of Sciences of the United States of America, 113 (50) pp. 14372-14377. Peer-reviewed.
 
Genome-wide analysis identifies 12 loci influencing human reproductive behavior.
Barban N., Jansen R., de Vlaming R., Vaez A., Mandemakers J.J., Tropf F.C., Shen X., Wilson J.F., Chasman D.I., Nolte I.M. et al., 2016/12. Nature genetics, 48 (12) pp. 1462-1472. Peer-reviewed.
 
ORMDL3 expression levels have no influence on the activity of serine palmitoyltransferase.
Zhakupova A., Debeuf N., Krols M., Toussaint W., Vanhoutte L., Alecu I., Kutalik Z., Vollenweider P., Ernst D., von Eckardstein A. et al., 2016/12. FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 30 (12) pp. 4289-4300. Peer-reviewed.
TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.
Devalla H.D., Gélinas R., Aburawi E.H., Beqqali A., Goyette P., Freund C., Chaix M.A., Tadros R., Jiang H., Le Béchec A. et al., 2016/12. EMBO molecular medicine, 8 (12) pp. 1390-1408. Peer-reviewed.
A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape.
Ried J.S., Jeff M J., Chu A.Y., Bragg-Gresham J.L., van Dongen J., Huffman J.E., Ahluwalia T.S., Cadby G., Eklund N., Eriksson J. et al., 2016/11/23. Nature communications, 7 p. 13357.
 
New quality measure for SNP array based CNV detection.
Macé A., Tuke M.A., Beckmann J.S., Lin L., Jacquemont S., Weedon M.N., Reymond A., Kutalik Z., 2016/11/01. Bioinformatics (Oxford, England), 32 (21) pp. 3298-3305. Peer-reviewed.
 
New quality measure for SNP array based CNV detection.
Macé A., Tuke M.A., Beckmann J.S., Lin L., Jacquemont S., Weedon M.N., Reymond A., Kutalik Z., 2016/11/01. Bioinformatics, 32 (21) pp. 3298-3305. Peer-reviewed.
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.
Ehret G.B., Ferreira T., Chasman D.I., Jackson A.U., Schmidt E.M., Johnson T., Thorleifsson G., Luan J., Donnelly L.A., Kanoni S. et al., 2016/10. Nature genetics, 48 (10) pp. 1171-1184. Peer-reviewed.
Genome-wide associations for birth weight and correlations with adult disease.
Horikoshi M., Beaumont R.N., Day F.R., Warrington N.M., Kooijman M.N., Fernandez-Tajes J., Feenstra B., van Zuydam N.R., Gaulton K.J., Grarup N. et al., 2016/09/28. Nature, 538 (7624) pp. 248-252. Peer-reviewed.
Across-cohort QC analyses of GWAS summary statistics from complex traits.
Chen G.B., Lee S.H., Robinson M.R., Trzaskowski M., Zhu Z.X., Winkler T.W., Day F.R., Croteau-Chonka D.C., Wood A.R., Locke A.E. et al., 2016/01. European journal of human genetics, 25 (1) pp. 137-146. Peer-reviewed.
Association of genetic risk scores with body mass index in Swiss psychiatric cohorts.
Saigi-Morgui N., Vandenberghe F., Delacrétaz A., Quteineh L., Gholamrezaee M., Aubry J.M., von Gunten A., Kutalik Z., Conus P., Eap C.B., 2016. Pharmacogenetics and Genomics, 26 (5) pp. 208-217. Peer-reviewed.
Correction: The influence of age and sex on genetic associations with adult body size and shape : a large-scale genome-wide interaction study.
Winkler T.W., Justice A.E., Graff M., Barata L., Feitosa M.F., Chu S., Czajkowski J., Esko T., Fall T., Kilpeläinen T.O. et al., 2016., Article changed to Erratum / Correction by Bibliomics (AP).
Fast and Rigorous Computation of Gene and Pathway Scores from SNP-Based Summary Statistics.
Lamparter D., Marbach D., Rueedi R., Kutalik Z., Bergmann S., 2016. Plos Computational Biology, 12 (1) pp. e1004714.
 
Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.
Teumer A., Tin A., Sorice R., Gorski M., Yeo N.C., Chu A.Y., Li M., Li Y., Mijatovic V., Ko Y.A. et al., 2016. Diabetes, 65 (3) pp. 803-817. Peer-reviewed.
Genome-wide association study identifies 74 loci associated with educational attainment.
Okbay A., Beauchamp J.P., Fontana M.A., Lee J.J., Pers T.H., Rietveld C.A., Turley P., Chen G.B., Emilsson V., Meddens S.F. et al., 2016. Nature, 533 (7604) pp. 539-542. Peer-reviewed.
Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels.
Kilpeläinen T.O., Carli J.F., Skowronski A.A., Sun Q., Kriebel J., Feitosa M.F., Hedman Å.K., Drong A.W., Hayes J.E., Zhao J. et al., 2016. Nature Communications, 7 p. 10494. Peer-reviewed.
Impact of a cis-associated gene expression SNP on chromosome 20q11.22 on bipolar disorder susceptibility, hippocampal structure and cognitive performance.
Li M., Luo X.J., Landén M., Bergen S.E., Hultman C.M., Li X., Zhang W., Yao Y.G., Zhang C., Liu J. et al., 2016. British Journal of Psychiatry : the Journal of Mental Science, 208 (2) pp. 128-137. Peer-reviewed.
Meta-analysis of genome-wide association studies of anxiety disorders.
Otowa T., Hek K., Lee M., Byrne E.M., Mirza S.S., Nivard M.G., Bigdeli T., Aggen S.H., Adkins D., Wolen A. et al., 2016. Molecular Psychiatry, 21 (10) pp. 1391-1399. Peer-reviewed.
 
Narcolepsy-Associated HLA Class I Alleles Implicate Cell-Mediated Cytotoxicity.
Tafti M., Lammers G.J., Dauvilliers Y., Overeem S., Mayer G., Nowak J., Pfister C., Dubois V., Eliaou J.F., Eberhard H.P. et al., 2016. Sleep, 39 (3) pp. 581-587. Peer-reviewed.
Prevalence and determinants of periodic limb movements in the general population.
Haba-Rubio J., Marti-Soler H., Marques-Vidal P., Tobback N., Andries D., Preisig M., Waeber G., Vollenweider P., Kutalik Z., Tafti M. et al., 2016. Annals of Neurology, 79 (3) pp. 464-474. Peer-reviewed.
 
Tissue-specific regulatory circuits reveal variable modular perturbations across complex diseases.
Marbach D., Lamparter D., Quon G., Kellis M., Kutalik Z., Bergmann S., 2016. Nature Methods, 13 (4) pp. 366-370. Peer-reviewed.
Weighted Genetic Risk Scores and Prediction of Weight Gain in Solid Organ Transplant Populations.
Saigi-Morgui N., Quteineh L., Bochud P.Y., Crettol S., Kutalik Z., Wojtowicz A., Bibert S., Beckmann S., Mueller N.J., Binet I. et al., 2016. PloS one, 11 (10) pp. e0164443. Peer-reviewed.
 
Heritability of ambulatory and office blood pressure in the Swiss population.
Alwan H., Ehret G., Ponte B., Pruijm M., Ackermann D., Guessous I., Staessen J.A., Asayama K., Kutalik Z., Vuistiner P. et al., 2015/10. Journal of Hypertension, 33 (10) pp. 2061-2067. Peer-reviewed.
 
Impact of HSD11B1 polymorphisms on BMI and components of the metabolic syndrome in patients with psychotropic treatments
Quteineh L., Vandenberghe F., Saigi Morgui N., Delacretaz A., Choong E., Gholam-Rezaee M., Magistretti P., Bondolfi G., von Gunten A., Preisig M. et al., 2015/06. dans 12th World Congress of Biological Psychiatry, Athens, Greece, June 14-18, 2015.
 
Influence of MCHR2 and MCHR2-AS1 genetic polymorphisms on body mass index in psychiatric patients and in subjects from the general population with present or past atypical depression
Choong E., Delacretaz A., Preisig M., Vandenberghe F., Saigi Morgui N., Quteineh L., Gholam-Rezaee M., Kutalik Z., Castelao P., Aubry J.-M. et al., 2015/06. dans 12th World congress of Biological Psychiatry (WFSBP)- 14 – 18 june 2015 - Athens, Greece.
Genome-wide association study of kidney function decline in individuals of European descent.
Gorski M., Tin A., Garnaas M., McMahon G.M., Chu A.Y., Tayo B.O., Pattaro C., Teumer A., Chasman D.I., Chalmers J. et al., 2015/05. Kidney International, 87 (5) pp. 1017-1029. Peer-reviewed.
Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption
Cornelis M.C., Cornelis M.C., Byrne E.M., Esko T., Nalls M.A., Ganna A., Paynter N., Monda K.L., Amin N., Fischer K. et al., 2015/05. Molecular Psychiatry, 20 (5) pp. 647-656.
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.
Maillard A.M., Ruef A., Pizzagalli F., Migliavacca E., Hippolyte L., Adaszewski S., Dukart J., Ferrari C., Conus P., Männik K. et al., 2015/02. Molecular psychiatry, 20 (1) pp. 140-147. Peer-reviewed.
A genetic risk score combining 32 SNPs is associated with body mass index and improves obesity prediction in people with major depressive disorder.
Hung C.F., Breen G., Czamara D., Corre T., Wolf C., Kloiber S., Bergmann S., Craddock N., Gill M., Holsboer F. et al., 2015. Bmc Medicine, 13 p. 86. Peer-reviewed.
Association of PCK1 with Body Mass Index and Other Metabolic Features in Patients With Psychotropic Treatments.
Saigi-Morgui N., Vandenberghe F., Delacrétaz A., Quteineh L., Choong E., Gholamrezaee M., Magistretti P., Aubry J.M., von Gunten A., Preisig M. et al., 2015. Journal of Clinical Psychopharmacology, 35 (5) pp. 544-552. Peer-reviewed.
Copy number variations and cognitive phenotypes in unselected populations
Männik K., Mägi R., Macé A., Cole B., Guyatt A.L., Shihab H.A., Maillard A.M., Alavere H., Kolk A., Reigo A. et al., 2015. Journal of the American Medical Association, 313 (20) pp. 2044-2054. Peer-reviewed.
 
Corrigendum : Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis
Benyamin B., Esko T., Ried J.S., Radhakrishnan A., Vermeulen S.H., Traglia M., Gögele M., Anderson D., Broer L., Podmore C. et al., 2015..
 
Corrigendum: reduced IFNλ4 activity is associated with improved HCV clearance and reduced expression of interferon-stimulated genes.
Terczyńska-Dyla E., Bibert S., Duong F.H., Krol I., Jørgensen S., Collinet E., Kutalik Z., Aubert V., Cerny A., Kaiser L. et al., 2015..
EasyStrata: evaluation and visualization of stratified genome-wide association meta-analysis data.
Winkler T.W., Kutalik Z., Gorski M., Lottaz C., Kronenberg F., Heid I.M., 2015. Bioinformatics (oxford, England), 31 (2) pp. 259-261. Peer-reviewed.
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