Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis.

doi:10.1371/journal.pmed.1002179

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Article

Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis.

PLoS medicine - 1 Nov 2016

Lotta Luca A, Scott Robert A, Sharp Stephen J, Burgess Stephen, Luan Jian'an, Tillin Therese, Schmidt Amand F, Imamura Fumiaki, Stewart Isobel D, Perry John R B, Marney Luke, Koulman Albert, Karoly Edward D, Forouhi Nita G, Sjögren Rasmus J O, Näslund Erik, Zierath Juleen R, Krook Anna, Savage David B, Griffin Julian L, Chaturvedi Nishi, Hingorani Aroon D, Khaw Kay-Tee, Barroso Inês, McCarthy Mark I, O'Rahilly Stephen, Wareham Nicholas J, Langenberg Claudia

Abstract excerpt

BACKGROUND: Higher circulating levels of the branched-chain amino acids (BCAAs; i.e., isoleucine, leucine, and valine) are strongly associated with higher type 2 diabetes risk, but it is not known whether this association is causal. We undertook large-scale human genetic analyses to address this question. METHODS AND FINDINGS: Genome-wide studies of BCAA levels in 16,596 individuals revealed five genomic regions...

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PMID: 27898682
DOI: 10.1371/journal.pmed.1002179
PMCID: PMC5127513

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