title: Association of the 5-HT2A receptor gene polymorphisms with obstructive sleep apnea hypopnea syndrome in Chinese Han population.
abstract: CONCLUSIONS
  The -1438G/A polymorphism of 5-HT2A receptor gene may associate with obstructive sleep apnea hypopnea syndrome (OSAHS) in a Chinese Han population. Different genotypes of -1438G/A polymorphism may influence the ventilatory activity in response to hypoxia, and in turn the sleep breath status.
  
  
  OBJECTIVE
  This study was designed to assess the association of polymorphisms in all exons and promoter region of the 5-HT2A receptor gene with OSAHS in a Chinese Han population.
  
  
  METHODS
  A total of 315 subjects (210 patients and 105 controls) were included for genetic analyses of polymorphisms in all exons and promoter region of the 5-HT2A receptor gene.
  
  
  RESULTS
  Six single nucleoside polymorphism (SNP) sites were identified in the sequencing of the promoter and exons of the 5-HT2A receptor gene; however, genotypes and allele frequencies of the SNPs did not show significant differences between the patients and controls except the -1438G/A polymorphism. For SNP of -1438G/A, the A/A genotype was over-represented and the allele A was more frequent in the patients, while the G/A genotype was over-represented and the allele G was more frequent in the controls (p < 0.001, p = 0.005, respectively). In the patients, the A/A and G/A genotypes were over-represented in the subgroups with lowest nocturnal SaO(2) (LSaO(2)) ≤75% and LSaO(2) >75%, respectively (p = 0.006).
authors.affiliation: Department of Otolaryngology Head and Neck Surgery, Affiliated Beijing Tongren Hospital, Capital Medical University, Ministry of Education, 1# Dongjiaominxiang Street, Beijing, China.
authors.forename: Guoping
authors.initials: G
authors.lastname: Yin
authors.forename: Jingying
authors.initials: J
authors.lastname: Ye
authors.forename: Demin
authors.initials: D
authors.lastname: Han
authors.forename: Yuhuan
authors.initials: Y
authors.lastname: Zhang
authors.forename: Wotan
authors.initials: W
authors.lastname: Zeng
authors.forename: Chen
authors.initials: C
authors.lastname: Liang
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D002681:China; D005091:Exons; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010100:Oxygen / Q000097:blood; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D044402:Receptor, Serotonin, 5-HT2A / Q000235:genetics*; D020181:Sleep Apnea, Obstructive / Q000235:genetics*; D055815:Young Adult
chemical_list: D044402:Receptor, Serotonin, 5-HT2A; D010100:Oxygen