Genetic influence on capillary oxygen saturation: A twin study

David Laszlo Tarnoki, Emanuela Medda, Adam Domonkos Tarnoki, Zsofia Lazar, Corrado Fagnani, Maria Antonietta Stazi, Kinga Karlinger, Peter Torzsa, Laszlo Kalabay, Zsolt Garami, Viktor Berczi, Ildiko Horvath

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Background: While heritability has been shown for daytime sleepiness, the heritability of daytime capillary oxygen saturation (SpO2) has not been described in detail. Our aim was to estimate the role of genes and environmental factors-both shared and unshared-in the variation of daytime SpO2. Methods: A total of 193 adult healthy twin pairs (138 monozygotic, 55 dizygotic) were recruited in Hungary and in the United States [age = 43.6 ± 15.6 years (mean ± SD)]. SpO2 was measured by pulse oximetry. Univariate quantitative genetic modeling was performed to decompose the phenotypic variance of the considered parameter into heritability (A), shared (C), and unshared (E) environmental effects. Results: SpO2 twin correlation in monozygotic twins was stronger than in dizygotic twins (0.30 and -0.15, respectively, p < 0.05). Age-, sex-, country-, and body mass index-adjusted genetic effects accounted for 26 % (95 % CI 10, 45 %) of the variance of SpO2, and the unshared environmental component explained the remaining 74 % (95 % CI 59, 89 %). No shared environmental influence on SpO2 was detected. The heritability of SpO2 was not different between smokers and nonsmokers. Conclusion: In summary, individual differences in daytime SpO2 are explained by genetic and unshared environmental effects. The strong unshared environmental influence highlights the role of prevention of known environmental risk factors.

Original languageEnglish (US)
Pages (from-to)429-434
Number of pages6
Issue number3
StatePublished - Jan 1 2014


  • Environment
  • Genetics
  • Heritability
  • Oximetry

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


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