ArticleNature genetics2016
A thrifty variant in CREBRF strongly influences body mass index in Samoans.
Article in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 172 papers, 5 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
172 citing papers in PubMed, 5 syntheses or guidelines pooled it, 279 citations in OpenAlex.
- Genome-wide association study provides novel insight into the genetic architecture of severe obesity.PLoS genetics · 2025Pooled it
- Type 2 Diabetes Prevalence, Control and Management within Fiji,Kiribati, Samoa, the Solomon Islands, Tonga, and Vanuatu: A ScopingReview with a Systematic Approach.Current diabetes reviews · 2024Pooled it
- Association of rs9939609 in FTO with BMI among Polynesian peoples living in Aotearoa New Zealand and other Pacific nations.Journal of human genetics · 2023Pooled it
- A stop-gain variant inHGG advances · 2023Pooled it
- Pooled it
- Stratified glucose-lowering response to vildagliptin and pioglitazone by obesity and hypertriglyceridemia in a randomized crossover trial.Frontiers in endocrinology · 2022Trial
- The Soifua Manuia reference panel with 2,570 Samoan haplotypes improves genotype imputation quality among Samoans.Communications biology · 2026Article
- Functional Annotation of GWAS Loci Using Public Transcriptome and Epigenome Datasets Reveals Non-Coding Genes and Regulatory Elements Which May Contribute to BMI.International journal of molecular sciences · 2026Article
- Childhood obesity in Pacific Island countries and Territories: from fragmented evidence to coordinated action.The Lancet regional health. Western Pacific · 2026Article
- Structural Variant Imputation in Samoans Using a Population-Specific Reference Panel.medRxiv : the preprint server for health sciences · 2026Article
- The Use of Population Isolates to Identify Metabolic Syndrome's Genetic Aetiology.Molecular genetics & genomic medicine · 2026Review
- Selection-guided discovery in South Asians implicates the MAPT locus in insulin resistance.medRxiv : the preprint server for health sciences · 2026Article
- A scoping review on cardiometabolic risk factors among Pacific Island populations and implications on future research in the region.American journal of epidemiology · 2026Article
- Meta-analysis of over 8,000 individuals from Hawai'i and Samoa for genetic associations to cardiometabolic phenotypes.medRxiv : the preprint server for health sciences · 2026Article
- Polygenic and single-locus selection on BMI during Polynesian expansion.Journal of human genetics · 2026Article
- Genome-wide association study of mature cow size traits in American Angus cattle.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- Interplay between obesity-associated insulin resistance and immune system through the lens of evolutionary medicine.Molecular metabolism · 2026Review
- Reproductive and metabolic hormone associations in adult Samoan males with and without obesity.Evolution, medicine, and public health · 2026Article
- Global, Regional, and National Prevalence for Type 2 Diabetes Among Women of Childbearing Age, 1992-2021: An Age-Period-Cohort Analysis Based on the Global Burden of Disease Study 2021.Journal of diabetes research · 2026Article
- Gestational diabetes-Risk factors and outcomes among American Samoan Women (GROW): A longitudinal cohort study protocol.PloS one · 2026Article
112 more citing papers are in PubMed but not listed here.
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16 authors at 6 institutions in 3 countries.
Funding
Abstract
Samoans are a unique founder population with a high prevalence of obesity, making them well suited for identifying new genetic contributors to obesity. 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/m(2) 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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.