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Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level.

Publication ,  Journal Article
Wang, H; Cade, BE; Chen, H; Gleason, KJ; Saxena, R; Feng, T; Larkin, EK; Vasan, RS; Lin, H; Patel, SR; Tracy, RP; Liu, Y; Gottlieb, DJ ...
Published in: Hum Mol Genet
December 1, 2016

Genetic determinants of sleep-disordered breathing (SDB), a common set of disorders that contribute to significant cardiovascular and neuropsychiatric morbidity, are not clear. Overnight nocturnal oxygen saturation (SaO2) is a clinically relevant and easily measured indicator of SDB severity but its genetic contribution has never been studied. Our recent study suggests nocturnal SaO2 is heritable. We performed linkage analysis, association analysis and haplotype analysis of average nocturnal oxyhaemoglobin saturation in participants in the Cleveland Family Study (CFS), followed by gene-based association and additional tests in four independent samples. Linkage analysis identified a peak (LOD = 4.29) on chromosome 8p23. Follow-up association analysis identified two haplotypes in angiopoietin-2 (ANGPT2) that significantly contributed to the variation of SaO2 (P = 8 × 10-5) and accounted for a portion of the linkage evidence. Gene-based association analysis replicated the association of ANGPT2 and nocturnal SaO2. A rare missense SNP rs200291021 in ANGPT2 was associated with serum angiopoietin-2 level (P = 1.29 × 10-4), which was associated with SaO2 (P = 0.002). Our study provides the first evidence for the association of ANGPT2, a gene previously implicated in acute lung injury syndromes, with nocturnal SaO2, suggesting that this gene has a broad range of effects on gas exchange, including influencing oxygenation during sleep.

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Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

December 1, 2016

Volume

25

Issue

23

Start / End Page

5244 / 5253

Location

England

Related Subject Headings

  • Sleep Apnea Syndromes
  • Sleep
  • Respiration
  • Polymorphism, Single Nucleotide
  • Oxyhemoglobins
  • Oxygen Consumption
  • Oxygen
  • Male
  • Humans
  • Haplotypes
 

Citation

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Wang, H., Cade, B. E., Chen, H., Gleason, K. J., Saxena, R., Feng, T., … Zhu, X. (2016). Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level. Hum Mol Genet, 25(23), 5244–5253. https://doi.org/10.1093/hmg/ddw324
Wang, Heming, Brian E. Cade, Han Chen, Kevin J. Gleason, Richa Saxena, Tao Feng, Emma K. Larkin, et al. “Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level.Hum Mol Genet 25, no. 23 (December 1, 2016): 5244–53. https://doi.org/10.1093/hmg/ddw324.
Wang H, Cade BE, Chen H, Gleason KJ, Saxena R, Feng T, et al. Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level. Hum Mol Genet. 2016 Dec 1;25(23):5244–53.
Wang, Heming, et al. “Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level.Hum Mol Genet, vol. 25, no. 23, Dec. 2016, pp. 5244–53. Pubmed, doi:10.1093/hmg/ddw324.
Wang H, Cade BE, Chen H, Gleason KJ, Saxena R, Feng T, Larkin EK, Vasan RS, Lin H, Patel SR, Tracy RP, Liu Y, Gottlieb DJ, Below JE, Hanis CL, Petty LE, Sunyaev SR, Frazier-Wood AC, Rotter JI, Post W, Lin X, Redline S, Zhu X. Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level. Hum Mol Genet. 2016 Dec 1;25(23):5244–5253.
Journal cover image

Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

December 1, 2016

Volume

25

Issue

23

Start / End Page

5244 / 5253

Location

England

Related Subject Headings

  • Sleep Apnea Syndromes
  • Sleep
  • Respiration
  • Polymorphism, Single Nucleotide
  • Oxyhemoglobins
  • Oxygen Consumption
  • Oxygen
  • Male
  • Humans
  • Haplotypes