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Polymorphisms of the 5-hydroxytryptamine 2A/2C receptor genes and 5-hydroxytryptamine transporter gene in Chinese

Hongbin Chen1, Ke Hu, Jianyong Zhu

  • 1Division of Respiratory Disease, Renmin Hospital of Wuhan University, 99 Zhangzhidong Road, Wuchang, Wuhan, 430060, China.

Sleep & Breathing = Schlaf & Atmung
|March 16, 2013
PubMed
Abstract

Insights

Genetic variations in serotonin receptors and transporters are linked to obstructive sleep apnea-hypopnea syndrome (OSAHS). The 5-HTR 2A gene A1438G polymorphism and 5-HTT-VNTR allele 10 may increase OSAHS susceptibility in the Chinese Han population.

Area of Science:

  • Genetics
  • Sleep Medicine
  • Pharmacogenomics

Background:

  • Obstructive sleep apnea-hypopnea syndrome (OSAHS) has a known genetic predisposition.
  • Polymorphisms in serotonin receptor genes (5-HTR 2A/2C) and the serotonin transporter gene (5-HTT) are potential contributors to OSAHS pathogenesis.

Purpose of the Study:

  • To investigate the prevalence of specific gene polymorphisms in the Chinese Han population with OSAHS.
  • To explore the association between 5-HTR 2A/2C and 5-HTT gene polymorphisms and OSAHS susceptibility.

Main Methods:

  • Genotyping of 226 Chinese Han individuals (121 OSAHS patients, 105 controls) using PCR-RFLP.
  • Analysis of A1438G and T102C polymorphisms in 5-HTR 2A, G796C in 5-HTR 2C, and LPR/VNTR polymorphisms in 5-HTT.

Main Results:

  • Significantly higher AA genotype and A allele frequencies of 5-HTR 2A A1438G polymorphism in OSAHS patients compared to controls.
  • Increased frequencies of 10/10, 12/10 genotypes and the 10 allele for 5-HTT-VNTR in the OSAHS group.
  • No significant differences for 5-HTR 2A T102C, 5-HTR 2C G796C, and 5-HTT-LPR polymorphisms between groups.

Conclusions:

  • The A1438G polymorphism of the 5-HTR 2A gene may play a role in OSAHS pathogenesis in the Chinese Han population.
  • 5-HTT VNTR polymorphism, specifically allele 10, appears to be associated with increased susceptibility to OSAHS.

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