Abstract

At present, variants of the 5-hydroxytryptamine receptor 2A (5-HTR2A) and interleukin-6 (IL-6) genes may be susceptible markers to develop for obstructive sleep apnea-hypopnea syndrome (OSAHS). Therefore, the aim of the present study was to explore the potential associations between the 5-HTR2A and IL-6 single-nucleotide polymorphisms (SNPs) and OSAHS. In total there were 130 cases and 136 controls collected for genotyping of 5-HTR2A (rs6311) and IL-6 (rs1800796) SNPs. The association of these SNPs with OSAHS risk were evaluated by computing the odds ratio (OR) and 95% confidence interval (CI) from multivariate unconditional logistic regression analyses with adjustment for gender and age. The results indicated that the genotype and allele frequencies in these two loci (rs6311 and rs1800796) were not significantly different between the cases and controls. However, carrying the 'C' allele of rs6311 has a protective effect against OSAHS via the gender-specific comparison (P=0.0409; OR, 1.744; 95% CI, 1.021-2.978). The 'G' allele and 'CG' genotype distribution of rs1800796, and 'C' allele and 'CT' genotype distribution of rs6311 have significant differences between the mild and moderate group (P<0.05). Similarly, the genotype distribution of rs6311 has differences between mild and severe cases (P=0.0026). The current research demonstrated that variants of rs6311 have an association with OSAHS in males. Additionally, polymorphisms of rs6311 and rs1800796 have relevance to the severity of OSAHS.

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