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

• DOI: 10.1007/s11325-013-0829-0
• Publication Date: 2013-03-13T11:12:31Z
• Authors: Hongbin Chen; Ke Hu; Jianyong Zhu; Yunyan Xianyu; Xia Cao; Jing Kang; Jingya He; Pengzhan Zhao; Yongtian Mei
• Keywords: Adult; Male; Serotonin Plasma Membrane Transport Proteins; China; Sleep Apnea, Obstructive; Polymorphism, Genetic; Genotype; Minisatellite Repeats; Middle Aged; Polymerase Chain Reaction; 3. Good health; 03 medical and health sciences; 0302 clinical medicine; Asian People; Receptor, Serotonin, 5-HT2C; Humans; Female; Genetic Predisposition to Disease; Receptor, Serotonin, 5-HT2A; Alleles; Polymorphism, Restriction Fragment Length

It is known that there is a genetic predisposition to OSAHS. Polymorphisms of the 5-hydroxytryptamine (5-HT) 2A/2C receptors (5-HTR 2A/2C) genes and 5-HT transporter (5-HTT) gene may be associated with the pathogenesis of obstructive sleep apnea-hypopnea syndrome (OSAHS).In this study, we aimed to investigate the prevalence of polymorphisms of the 5-HTR 2A/2C genes and the 5-HTT gene in the Chinese Han OSAHS population.A total of 226 unrelated subjects of the Chinese Han population, including 121 OSAHS patients and 105 healthy controls, were involved in the study. The A1438G and T102C polymorphisms of the 5-HTR 2A gene, G796C polymorphisms of the 5-HTR 2C gene, and two polymorphisms (gene-linked polymorphic region [LPR] and variable number tandem repeat [VNTR]) of the 5-HTT gene were identified by polymerase chain reaction (PCR)-RFLP.Compared with the control group, the OSAHS group had significantly higher AA genotype and A allele frequencies in the A1438G polymorphisms of the 5-HTR 2A gene, and had significantly higher frequencies of 10/10, 12/10 genotypes and the allele 10 of 5-HTT-VNTR. There were no significant differences between the genotype distribution and allele frequencies of the OSAHS group and the control group regarding the T102C polymorphisms of the 5-HTR 2A gene and the G796C polymorphisms of the 5-HTR 2C gene, the frequencies of the S or L allele and the S/S, S/L or L/L genotypes in 5-HTT-LPR.The A1438G polymorphism of the 5-HTR 2A gene might be involved in the pathogenesis in OSAHS subjects of the Chinese Han population. Meanwhile, our findings support the argument that 5-HTT polymorphism appears to be associated with susceptibility to OSAHS, because the allele 10 of 5-HTT-VNTR might be a susceptible factor.