2014/01/20 by Nasrine Bendjilali, W.-C. Hsueh, Qimei He +6 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genetics, Aging, and Longevity in Model Organisms #Epigenetics and DNA Methylation #International HapMap Project #Biology #Linkage disequilibrium #Genetic diversity #Longevity #Genetics #Evolutionary biology #Population #Haplotype #Population bottleneck #Genome-wide association study #Genetic association #Genome #Allele #Microsatellite #Gene #Genotype #Demography #Single-nucleotide polymorphism
paper · pdf · doi:10.1093/gerona/glt203
openalex publication_date 2014/01/20 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/04
Isolated populations have advantages for genetic studies of longevity from decreased haplotype diversity and long-range linkage disequilibrium. This permits smaller sample sizes without loss of power, among other utilities. Little is known about the genome of the Okinawans, a potential population isolate, recognized for longevity. Therefore, we assessed genetic diversity, structure, and admixture in Okinawans, and compared this with Caucasians, Chinese, Japanese, and Africans from HapMap II, genotyped on the same Affymetrix GeneChip Human Mapping 500K array. Principal component analysis, haplotype coverage, and linkage disequilibrium decay revealed a distinct Okinawan genome-more homogeneity, less haplotype diversity, and longer range linkage disequilibrium. Population structure and admixture analyses utilizing 52 global reference populations from the Human Genome Diversity Cell Line Panel demonstrated that Okinawans clustered almost exclusively with East Asians. Sibling relative risk (λs) analysis revealed that siblings of Okinawan centenarians have 3.11 times (females) and 3.77 times (males) more likelihood of centenarianism. These findings suggest that Okinawans are genetically distinct and share several characteristics of a population isolate, which are prone to develop extreme phenotypes (eg, longevity) from genetic drift, natural selection, and population bottlenecks. These data support further exploration of genetic influence on longevity in the Okinawans.