title: Polymorphisms of the 5-hydroxytryptamine 2A/2C receptor genes and 5-hydroxytryptamine transporter gene in Chinese patients with OSAHS.
abstract: BACKGROUND
  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).
  
  
  OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Respiratory Disease, Renmin Hospital of Wuhan University, 99 Zhangzhidong Road, Wuchang, Wuhan, 430060, China.
authors.forename: Hongbin
authors.initials: H
authors.lastname: Chen
authors.forename: Ke
authors.initials: K
authors.lastname: Hu
authors.forename: Jianyong
authors.initials: J
authors.lastname: Zhu
authors.forename: Yunyan
authors.initials: Y
authors.lastname: Xianyu
authors.forename: Xia
authors.initials: X
authors.lastname: Cao
authors.forename: Jing
authors.initials: J
authors.lastname: Kang
authors.forename: Jingya
authors.initials: J
authors.lastname: He
authors.forename: Pengzhan
authors.initials: P
authors.lastname: Zhao
authors.forename: Yongtian
authors.initials: Y
authors.lastname: Mei
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D018598:Minisatellite Repeats / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics; D044402:Receptor, Serotonin, 5-HT2A / Q000235:genetics*; D044405:Receptor, Serotonin, 5-HT2C / Q000235:genetics*; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*; D020181:Sleep Apnea, Obstructive / Q000235:genetics*
chemical_list: D044402:Receptor, Serotonin, 5-HT2A; D044405:Receptor, Serotonin, 5-HT2C; C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins