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

Research output: Contribution to journalArticle

75 Citations (Scopus)

Abstract

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
Volume69
Issue number5
StatePublished - Oct 1997
Externally publishedYes

Fingerprint

quantitative genetics
genetic analysis
genetic techniques and protocols
allele
Alleles
Homozygote
saturation
major genes
Oxygen
homozygosity
alleles
oxygen
phenotypic variation
Analysis of Variance
Tibet
decomposition analysis
Statistical Data Interpretation
Oximetry
China
gene

Keywords

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

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Genetics
  • Genetics(clinical)
  • Ecology, Evolution, Behavior and Systematics

Cite this

Beall, C. M., Strohl, K. P., Blangero, J., Williams-Blangero, S., Decker, M. J., Brittenham, G. M., & Goldstein, M. C. (1997). Quantitative genetic analysis of arterial oxygen saturation in Tibetan highlanders. Human Biology, 69(5), 597-604.

Quantitative genetic analysis of arterial oxygen saturation in Tibetan highlanders. / Beall, Cynthia M.; Strohl, Kingman P.; Blangero, John; Williams-Blangero, Sarah; Decker, Michael J.; Brittenham, Gary M.; Goldstein, Melvyn C.

In: Human Biology, Vol. 69, No. 5, 10.1997, p. 597-604.

Research output: Contribution to journalArticle

Beall, CM, Strohl, KP, Blangero, J, Williams-Blangero, S, Decker, MJ, Brittenham, GM & Goldstein, MC 1997, 'Quantitative genetic analysis of arterial oxygen saturation in Tibetan highlanders', Human Biology, vol. 69, no. 5, pp. 597-604.
Beall CM, Strohl KP, Blangero J, Williams-Blangero S, Decker MJ, Brittenham GM et al. Quantitative genetic analysis of arterial oxygen saturation in Tibetan highlanders. Human Biology. 1997 Oct;69(5):597-604.
Beall, Cynthia M. ; Strohl, Kingman P. ; Blangero, John ; Williams-Blangero, Sarah ; Decker, Michael J. ; Brittenham, Gary M. ; Goldstein, Melvyn C. / Quantitative genetic analysis of arterial oxygen saturation in Tibetan highlanders. In: Human Biology. 1997 ; Vol. 69, No. 5. pp. 597-604.
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