Quantitative genetic analysis of arterial oxygen saturation in Tibetan highlanders

Cynthia M. Beall, Kingman P. Strohl, John Blangero, Sarah Williams-Blangero, Michael J. Decker, Gary M. Brittenham, Melvyn C. Goldstein

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    83 Scopus citations


    This study was designed to test the hypothesis that genetic differences inferred from biological kinship relationships among individuals contribute to individual variation in percentage of oxygen saturation of arterial hemoglobin (Sa(O2)) in a high-altitude native population. Sa(O2) data were obtained by pulse oximetry from 354 nonpregnant, healthy Tibetan residents of Pen-Dri, two rural agropastoral villages at 3800-4065 m altitude in Lhasa Municipal District, Tibet Autonomous Region, China. Statistical analyses of these data from 46 pedigrees tested the hypothesis of a significant genetic contribution to Sa(O2) variation. The average Sa(O2) was 89.4 ± 0.2%, with a range of 76-97%. Additive genetic effects account for 44% of the interindividual phenotypic variation in Sa(O2) in the sample. Complex segregation analysis and variance decomposition analysis determined that 21% of the total phenotypic variation could be explained by a major gene influencing Sa(O2). Homozygotes for the low-Sa(O2) allele have a mean Sa(O2) of 83.6%, whereas heterozygotes and homozygotes for the high-Sa(O2) allele have means of 87.6% and 88.3%, respectively. This confirms findings in another Tibetan sample and extends the known geographic distribution of the major gene. These results suggest the hypothesis that individuals with the dominant allele for higher Sa(O2) have a selective advantage in their high-altitude hypoxic environment.

    Original languageEnglish (US)
    Pages (from-to)597-604
    Number of pages8
    JournalHuman Biology
    Issue number5
    StatePublished - Oct 1 1997


    • Adaptation
    • Heritability
    • High-altitude hypoxia
    • Major gene
    • Tibet

    ASJC Scopus subject areas

    • Ecology, Evolution, Behavior and Systematics
    • Genetics
    • Genetics(clinical)


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