Association of the 5-HT2A receptor gene polymorphisms with obstructive sleep apnea hypopnea syndrome in Chinese Han population

Abstract

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).

A Systematic Review and Meta-Analysis of the Association between Serotonergic Gene Polymorphisms and Obstructive Sleep Apnea Syndrome

“…Although race is a major factor in the distribution of gene polymorphisms, and our study data were from Japan [12], China [10], [13], [14], [19], [20], Turkey [9], and Brazil [11], we found no distribution differences in the gene polymorphisms evaluated. We could not conduct a haplotype analysis in this study because we could not collect original haplotype data.…”

“…Five studies were from China [10], [13], [14], [19], [20], one from Turkey [9], one from Brazil [11], and one from Japan [12] (Table S1). The studied populations were mainly middle-aged and slightly overweight in cases and controls, although one study lacked this information (Table S1).…”

“…The combined samples for 5-HT2A 102C/T [9]–[14], 5-HT2A 1438G/A [9]–[11], [13], [14], 5-HTTLPR [10], [19], [20], and STin2VNTR [10], [19], [20] polymorphisms for the meta-analysis in case and control groups were 566, 466, 593, and 593 and 728, 551, 479, and 479, respectively (Table S1). …”

“…For the 5-HTR2A 1438G/A polymorphism, five studies had 466 case subjects and 551 controls [9]–[11], [13], [14]. The I 2 of the dominant models (AA+AG vs. GG) and the A allele vs. G allele were over 50%, and the p values of the Q test were 0.47 and <0.01, respectively, suggesting strong heterogeneity among the studies.…”

“…In 5-HTR 2A, two polymorphisms have been reported: a 1438A/G polymorphism in the promoter region and an MspI polymorphic site at position 102T/C [12]. A 796C/G polymorphism locus in the 5-HTR 2C gene has also been identified [13].…”