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J Gerontol A Biol Sci Med Sci. 2014 Dec;69(12):1474-84. doi: 10.1093/gerona/glt203. Epub 2014 Jan 20.

Who are the Okinawans? Ancestry, genome diversity, and implications for the genetic study of human longevity from a geographically isolated population.

Author information

  • 1Department of Mathematics, Rowan University, Glassboro, New Jersey. bendjilali@rowan.edu.
  • 2Departments of Medicine and Epidemiology & Biostatistics, University of California, San Francisco.
  • 3Pacific Health Research and Education Institute, Honolulu, Hawaii. Department of Research, Kuakini Medical Center, Honolulu, Hawaii.
  • 4Department of Psychiatry, University of California, San Diego, La Jolla.
  • 5Pacific Health Research and Education Institute, Honolulu, Hawaii. Ohana Genetics, Honolulu, Hawaii.
  • 6Department of Dermatology, Institute for Human Genetics, and Cardiovascular Research Institute, University of California, San Francisco.
  • 7Okinawa Research Center for Longevity Science, Urasoe, Okinawa, Japan. Faculty of Medicine, University of the Ryukyus, Nishihara, Okinawa, Japan.
  • 8Pacific Health Research and Education Institute, Honolulu, Hawaii. Department of Research, Kuakini Medical Center, Honolulu, Hawaii. Okinawa Research Center for Longevity Science, Urasoe, Okinawa, Japan. Department of Geriatric Medicine, John A Burns School of Medicine, University of Hawaii, Honolulu, Hawaii.

Abstract

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.

© The Author 2014. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

KEYWORDS:

Ancestry; Genome diversity; HapMap.; Longevity; Okinawa

PMID:
24444611
[PubMed - indexed for MEDLINE]
PMCID:
PMC4271021
[Available on 2015-12-01]
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