A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes
Minor allele frequency
DOI:
10.2337/db17-0187
Publication Date:
2017-08-25T00:20:21Z
AUTHORS (81)
ABSTRACT
Type 2 diabetes (T2D) affects more than 415 million people worldwide, and its costs to the health care system continue rise. To identify common or rare genetic variation with potential therapeutic implications for T2D, we analyzed replicated genome-wide protein coding in a total of 8,227 individuals T2D 12,966 without Latino descent. We identified novel variant IGF2 gene associated ∼20% reduced risk T2D. This variant, which has an allele frequency 17% Mexican population but is Europe, prevents splicing between exons 1 2. show vitro human liver adipose tissue that specific, allele-dosage–dependent reduction expression isoform In who do not carry protective allele, positively correlated both incidence increased plasma glycated hemoglobin providing support effects are mediated by reductions Broad phenotypic examination carriers revealed no association other disease states impaired reproductive health. These findings suggest reducing relevant tissues as new strategy even beyond Latin American population, major adverse on reproduction.
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