ArticleHuman molecular genetics2010
A functional ABCA1 gene variant is associated with low HDL-cholesterol levels and shows evidence of positive selection in Native Americans.
Article in Human molecular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers.
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Who cites it
74 citing papers in PubMed, 165 citations in OpenAlex.
- LXR signaling pathways link cholesterol metabolism with risk for prediabetes and diabetes.The Journal of clinical investigation · 2024Trial
- Molecular Dynamics Simulations Reveal Structural Changes Associated with the ABCA1 R230C Functional Variant.International journal of molecular sciences · 2026Article
- Pathway-Based Genetic Risk Scores Are Associated with Blood Lipids Among Young Mexican Adults.Nutrients · 2026Article
- Genetic insights into the peoples who shaped the American continent.Genetics and molecular biology · 2026Article
- Genetic and genomic insights of the Comcáac people.Journal of community genetics · 2025Review
- Serum copper modulates cognitive function in diabetic patients via an HDL-C-mediated pathway: identification of a 25 µg/dL exploratory threshold.Diabetology & metabolic syndrome · 2025Article
- Evolution, genetic diversity, and health.Nature medicine · 2025Review
- The HLA landscape of Colombia: a high-resolution analysis of 11,576 blood donors.Frontiers in immunology · 2025Article
- Genetic and Anthropometric Interplay: How Waist-to-Hip Ratio Modulates LDL-c Levels in Mexican Population.Nutrients · 2024Article
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- Biogeographic Perspectives on Human Genetic Diversification.Molecular biology and evolution · 2024Article
- Genetic associations with disease in populations with Indigenous American ancestries.Genetics and molecular biology · 2024Article
- Personalized medicine and nutrition in hepatology for preventing chronic liver disease in Mexico.Frontiers in nutrition · 2024Review
- Evaluation of the participation of ABCA1 transporter in epicardial and mediastinal adipose tissue from patients with coronary artery disease.Archives of endocrinology and metabolism · 2023Article
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- Indigenous people from Amazon show genetic signatures of pathogen-driven selection.Science advances · 2023Article
- Interaction betweenNutrients · 2023Article
- Single nucleotide variants in microRNA biosynthesis genes in Mexican individuals.Frontiers in genetics · 2023Article
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- The gene variant that helped put Latinxs in the 1000 genomes project.Nature reviews. Genetics · 2022Article
14 more citing papers are in PubMed but not listed here.
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Authors and funding
44 authors at 17 institutions in 6 countries.
Funding
Abstract
It has been suggested that the higher susceptibility of Hispanics to metabolic disease is related to their Native American heritage. A frequent cholesterol transporter ABCA1 (ATP-binding cassette transporter A1) gene variant (R230C, rs9282541) apparently exclusive to Native American individuals was associated with low high-density lipoprotein cholesterol (HDL-C) levels, obesity and type 2 diabetes in Mexican Mestizos. We performed a more extensive analysis of this variant in 4405 Native Americans and 863 individuals from other ethnic groups to investigate genetic evidence of positive selection, to assess its functional effect in vitro and to explore associations with HDL-C levels and other metabolic traits. The C230 allele was found in 29 of 36 Native American groups, but not in European, Asian or African individuals. C230 was observed on a single haplotype, and C230-bearing chromosomes showed longer relative haplotype extension compared with other haplotypes in the Americas. Additionally, single-nucleotide polymorphism data from the Human Genome Diversity Panel Native American populations were enriched in significant integrated haplotype score values in the region upstream of the ABCA1 gene. Cells expressing the C230 allele showed a 27% cholesterol efflux reduction (P< 0.001), confirming this variant has a functional effect in vitro. Moreover, the C230 allele was associated with lower HDL-C levels (P = 1.77 x 10(-11)) and with higher body mass index (P = 0.0001) in the combined analysis of Native American populations. This is the first report of a common functional variant exclusive to Native American and descent populations, which is a major determinant of HDL-C levels and may have contributed to the adaptive evolution of Native American populations.
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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.