Published in
Public Library of Science, PLoS Medicine, 11(13), p. e1002179, 2016
DOI: 10.1371/journal.pmed.1002179
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Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis.
,
Ra Scott,
Sj Sharp ,
Stephen Burgess ,
Jian’an Luan,
Therese Tillin,
Af Schmidt ,
Fumiaki Imamura ,
Id Stewart,
Jrb Perry,
Luke Marney ,
Albert Koulman ,
Ed Karoly,
Ng Forouhi,
Rj Sjögren
and other authors.
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Abstract
$\textbf{BACKGROUND}$: 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. $\textbf{METHODS AND FINDINGS}$: Genome-wide studies of BCAA levels in 16,596 individuals revealed five genomic regions associated at genome-wide levels of significance (p