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A thrifty variant in CREBRF strongly influences body mass index in Samoans.

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dc.contributor.author Minster, Ryan L
dc.contributor.author Hawley, Nicola L
dc.contributor.author Ting Su, Chi
dc.contributor.author Sefuiva Reupena, Muagututi'a
dc.contributor.author Viali, Dr. Satupa'itea
dc.contributor.author et.al.
dc.date.accessioned 2021-12-01T02:54:37Z
dc.date.available 2021-12-01T02:54:37Z
dc.date.issued 2016-07-25
dc.identifier.citation doi:10.1038/ng.3620 en_US
dc.identifier.uri ${sadil.baseUrl}/handle/123456789/881
dc.description 9 p. en_US
dc.description.abstract Samoans are a unique founder population with a high prevalence of obesity1–3, making them well suited for identifying new genetic contributors to obesity4. We conducted a genome-wide association study (GWAS) in 3,072 Samoans, discovered a variant, rs12513649, strongly associated with body mass index (BMI) (P = 5.3 × 10−14), and replicated the association in 2,102 additional Samoans (P = 1.2 × 10−9). Targeted sequencing identified a strongly associated missense variant, rs373863828 (p.Arg457Gln), in CREBRF (meta P = 1.4 × 10−20). Although this variant is extremely rare in other populations, it is common in Samoans (frequency of 0.259), with an effect size much larger than that of any other known common BMI risk variant (1.36–1.45 kg/m2 per copy of the risk-associated allele). In comparison to wild-type CREBRF, the Arg457Gln variant when overexpressed selectively decreased energy use and increased fat storage in an adipocyte cell model. These data, in combination with evidence of positive selection of the allele encoding p.Arg457Gln, support a ‘thrifty’ variant hypothesis as a factor in human obesity. en_US
dc.language.iso en en_US
dc.publisher Nature American Inc. en_US
dc.relation.ispartofseries Nature Genetics: Advance Online Publication;
dc.subject obesity en_US
dc.subject Samoa en_US
dc.subject androgens en_US
dc.subject body mass index (bmi) en_US
dc.title A thrifty variant in CREBRF strongly influences body mass index in Samoans. en_US
dc.type Article en_US


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