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

详细信息    查看全文

• 作者：Hongbin Chen (1)
  Ke Hu (1)
  Jianyong Zhu (2)
  Yunyan Xianyu (1)
  Xia Cao (1)
  Jing Kang (1)
  Jingya He (1)
  Pengzhan Zhao (1)
  Yongtian Mei (1)
  
• 关键词：5 ; Hydroxytryptamine ; Gene ; Polymorphism ; Obstructive sleep apnea–hypopnea syndrome
• 刊名：Sleep and Breathing
• 出版年：2013
• 出版时间：December 2013
• 年：2013
• 卷：17
• 期：4
• 页码：1241-1248
• 全文大小：
• 作者单位：Hongbin Chen (1)
  Ke Hu (1)
  Jianyong Zhu (2)
  Yunyan Xianyu (1)
  Xia Cao (1)
  Jing Kang (1)
  Jingya He (1)
  Pengzhan Zhao (1)
  Yongtian Mei (1)
  
  1. Division of Respiratory Disease, Renmin Hospital of Wuhan University, 99 Zhangzhidong Road, Wuchang, Wuhan, 430060, China
  2. Division of Respiratory Disease, People’s Hospital of Shiyan City, Shiyan, Hubei province, 442000, China
  
• ISSN：1522-1709

文摘

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). Objectives 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.