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CREBRF variant increases obesity risk and protects against diabetes in Samoans

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A genome-wide study in Samoans has identified a protein-altering variant (p.Arg475Gln) in CREBRF as being associated with 1.3-fold increased risk of obesity and, intriguingly, 1.6-fold decreased risk of type 2 diabetes. This variant, which is common among Samoans (minor allele frequency = 26%) but extremely rare in other populations, promotes fat storage and reduces energy use in cellular models.

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Figure 1: Effects of the CREBRF p.Arg457Gln and FTO variants in Samoans and European-ancestry populations, respectively.

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Authors and Affiliations

  1. Ruth J.F. Loos is at the Charles Bronfman Institute for Personalized Medicine, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.,

    Ruth J F Loos

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  1. Ruth J F Loos
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Correspondence to Ruth J F Loos.

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Loos, R. CREBRF variant increases obesity risk and protects against diabetes in Samoans. Nat Genet 48, 976–978 (2016). https://doi.org/10.1038/ng.3653

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