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 o...