A functional EGF+61 polymorphism is associated with severity of obstructive sleep apnea

Sleep Breath. 2015 May;19(2):495-8. doi: 10.1007/s11325-014-1035-4. Epub 2014 Jul 16.

Abstract

Background: Involvement of epidermal growth factor (EGF) is reported in diseases caused by hypoxia. Its functional polymorphism may alter its transcription, affecting EGF expression, contributing to obstructive sleep apnea (OSA).

Objective: The aim of this study was to investigate associations of EGF+61 polymorphism and risk of OSA.

Methods: Two hundred two participants were enrolled in this case-control study. DNA was extracted from peripheral blood, and EGF 61A/G polymorphism was determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay.

Results: No significant association between EGF 61 A/G polymorphism and risk of OSA was observed in any of the gene models tested (AA vs. GG: OR = 0.97, 95% CI = 0.37-2.55; P = 0.95). However, compared with GG genotype, AG genotype associated with decreased risk of severe OSA (AG vs. GG: OR = 0.32, 95% CI = 0.11-0.94).

Conclusions: Our study showed that AG genotype has a protective effect on OSA patients against severe disease, although EGF 61A/G polymorphisms have no role on the risk of the disease. Additional large studies should further validate our findings.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alleles*
  • Epidermal Growth Factor / genetics*
  • Female
  • Gene Expression Regulation / genetics
  • Genes, Dominant
  • Genetic Carrier Screening
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Homozygote
  • Humans
  • Male
  • Middle Aged
  • Models, Genetic
  • Polymorphism, Genetic / genetics*
  • Polysomnography
  • Sleep Apnea, Obstructive / diagnosis
  • Sleep Apnea, Obstructive / genetics*
  • Transcription, Genetic / genetics

Substances

  • Epidermal Growth Factor