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Lotta, L.A.* ; Pietzner, M.* ; Stewart, I.D.* ; Wittemans, L.B.L.* ; Li, C.* ; Bonelli, R.* ; Raffler, J. ; Biggs, E.K.* ; Oliver-Williams, C.* ; Auyeung, V.P.W.* ; Luan, J.* ; Wheeler, E.* ; Paige, E.* ; Surendran, P.* ; Michelotti, G.A.* ; Scott, R.A.* ; Burgess, S.* ; Zuber, V.* ; Sanderson, E.* ; Koulman, A.* ; Imamura, F.* ; Forouhi, N.G.* ; Khaw, K.T.* ; Bahlo, M.* ; Griffin, J.L.* ; Kastenmüller, G. ; Gribble, F.M.* ; Reimann, F.* ; Fauman, E.* ; Wareham, N.J.* ; Langenberg, C.*

A cross-platform approach identifies genetic regulators of human metabolism and health.

Nat. Genet. 53, 54-64 (2021)

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In cross-platform analyses of 174 metabolites, we identify 499 associations (P < 4.9 × 10^-10) characterized by pleiotropy, allelic heterogeneity, large and nonlinear effects and enrichment for nonsynonymous variation. We identify a signal at GLP2R (p.Asp470Asn) shared among higher citrulline levels, body mass index, fasting glucose-dependent insulinotropic peptide and type 2 diabetes, with β-arrestin signaling as the underlying mechanism. Genetically higher serine levels are shown to reduce the likelihood (by 95%) and predict development of macular telangiectasia type 2, a rare degenerative retinal disease. Integration of genomic and small molecule data across platforms enables the discovery of regulators of human metabolism and translation into clinical insights.

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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Genome-wide Association; Mendelian Randomization; Human Plasma; Variants; Desensitization; Diseases; Atlas

ISSN (print) / ISBN 1061-4036

e-ISSN 1546-1718

Journal Nature Genetics

Quellenangaben Volume: 53, Issue: 1, Pages: 54-64

Publisher Nature Publishing Group

Publishing Place New York, NY

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Computational Biology (ICB)

Grants Department of Health
Cancer Research UK
British Heart Foundation

Wellcome Trust
Medical Research Council
Chief Scientist Office