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

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 journal › Article › peer-review

83 Scopus citations

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 language	English (US)
Pages (from-to)	597-604
Number of pages	8
Journal	Human Biology
Volume	69
Issue number	5
State	Published - Oct 1 1997

Keywords

Adaptation
Heritability
High-altitude hypoxia
Major gene
Tibet

ASJC Scopus subject areas

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

Cite this

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title = "Quantitative genetic analysis of arterial oxygen saturation in Tibetan highlanders",

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.",

keywords = "Adaptation, Heritability, High-altitude hypoxia, Major gene, Tibet",

author = "Beall, {Cynthia M.} and Strohl, {Kingman P.} and John Blangero and Sarah Williams-Blangero and Decker, {Michael J.} and Brittenham, {Gary M.} and Goldstein, {Melvyn C.}",

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AU - Beall, Cynthia M.

AU - Strohl, Kingman P.

AU - Blangero, John

AU - Williams-Blangero, Sarah

AU - Decker, Michael J.

AU - Brittenham, Gary M.

AU - Goldstein, Melvyn C.

PY - 1997/10/1

Y1 - 1997/10/1

N2 - 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.

AB - 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.

KW - Adaptation

KW - Heritability

KW - High-altitude hypoxia

KW - Major gene

KW - Tibet

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Quantitative genetic analysis of arterial oxygen saturation in Tibetan highlanders

Abstract

Keywords

ASJC Scopus subject areas

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