ArticleBMC medical genetics2011
Testing the thrifty gene hypothesis: the Gly482Ser variant in PPARGC1A is associated with BMI in Tongans.
Article in BMC medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 3 of them syntheses that pooled it.
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Who cites it
24 citing papers in PubMed, 3 syntheses or guidelines pooled it, 60 citations in OpenAlex.
- 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
- The rs17782313 polymorphism near MC4R gene confers a high risk of obesity and hyperglycemia, while PGC1α rs8192678 polymorphism is weakly correlated with glucometabolic disorder: a systematic review and meta-analysis.Frontiers in endocrinology · 2023Pooled it
- Meta-analysis of association studies between five candidate genes and type 2 diabetes in Chinese Han population.Endocrine · 2012Pooled it
- Polygenic and single-locus selection on BMI during Polynesian expansion.Journal of human genetics · 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
- Variation in type 2 diabetes prevalence across different populations: the key drivers.Diabetologia · 2025Review
- Phenotypic and Genetic Diversity in Diabetes Across Populations.The Journal of clinical endocrinology and metabolism · 2025Review
- The Microbiota and Evolution of Obesity.Endocrine reviews · 2025Review
- Native Hawaiian and Pacific Islander populations in genomic research.NPJ genomic medicine · 2024Review
- Relation Between Obesity and Type 2 Diabetes: Evolutionary Insights, Perspectives and Controversies.Current obesity reports · 2024Review
- Whole-genome resequencing provides insights into the diversity and adaptation to desert environment in Xinjiang Mongolian cattle.BMC genomics · 2024Article
- Comparative physiological anthropogeny: exploring molecular underpinnings of distinctly human phenotypes.Physiological reviews · 2023Review
- Association between the PPARGC1A Gly482Ser polymorphism and muscle fitness in Chinese schoolchildren.PloS one · 2023Article
- Heart Failure And Type 2 Diabetes Mellitus: Neurohumoral, Histological And Molecular Interconnections.Current cardiology reviews · 2023Review
- The PPARGC1A Is the Gene Responsible for Thrifty Metabolism Related Metabolic Diseases: A Scoping Review.Genes · 2022Article
- Gene-nutrient interactions and susceptibility to human obesity.Genes & nutrition · 2017Review
- Lack of direct evidence for natural selection at the candidate thrifty gene locus, PPARGC1A.BMC medical genetics · 2016Article
- The Impact of Evolutionary Driving Forces on Human Complex Diseases: A Population Genetics Approach.Scientifica · 2016Review
- Current review of genetics of human obesity: from molecular mechanisms to an evolutionary perspective.Molecular genetics and genomics : MGG · 2015Review
- Linkage and association analysis of obesity traits reveals novel loci and interactions with dietary n-3 fatty acids in an Alaska Native (Yup'ik) population.Metabolism: clinical and experimental · 2015Article
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Authors and funding
14 authors at 9 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundthe thrifty gene hypothesis posits that, in populations that experienced periods of feast and famine, natural selection favoured individuals carrying thrifty alleles that promote the storage of fat and energy. Polynesians likely experienced long periods of cold stress and starvation during their settlement of the Pacific and today have high rates of obesity and type 2 diabetes (T2DM), possibly due to past positive selection for thrifty alleles. Alternatively, T2DM risk alleles may simply have drifted to high frequency in Polynesians. To identify thrifty alleles in Polynesians, we previously examined evidence of positive selection on T2DM-associated SNPs and identified a T2DM risk allele at unusually high frequency in Polynesians. We suggested that the risk allele of the Gly482Ser variant in the PPARGC1A gene was driven to high frequency in Polynesians by positive selection and therefore possibly represented a thrifty allele in the Pacific.
methodshere we examine whether PPARGC1A is a thrifty gene in Pacific populations by testing for an association between Gly482Ser genotypes and BMI in two Pacific populations (Maori and Tongans) and by evaluating the frequency of the risk allele of the Gly482Ser variant in a sample of worldwide populations.
resultswe find that the Gly482Ser variant is associated with BMI in Tongans but not in Maori. In a sample of 58 populations worldwide, we also show that the 482Ser risk allele reaches its highest frequency in the Pacific.
conclusionthe association between Gly482Ser genotypes and BMI in Tongans together with the worldwide frequency distribution of the Gly482Ser risk allele suggests that PPARGC1A remains a candidate thrifty gene in Pacific populations.
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