Association Study of Serotonin Transporter Gene Polymorphisms and Ventricular Septal Defects Related Possible Pulmonary Arterial Hypertension in Chinese Population

作者：Cao, Hailong; Gu, Haiyong; Qiu, Wanshan; Zuo, Weisong; Zheng, Liang; Wang, Zhanwei; Hu, Zhibin; Chen, Yijiang^*

来源：Clinical and Experimental Hypertension, 2009, 31(7): 605-614.

DOI：10.3109/10641960902993061

• serotonin transporter
• polymorphisms
• ventricular septal defects
• pulmonary arterial hypertension
• Chinese

Polymorphisms of serotonin transporter (5-HTT) gene were hypothesized to be associated with ventricular septal defects (VSD) related ultrasonographic pulmonary arterial hypertension (PAH) susceptibility. To test this hypothesis, we performed a case-case study in Chinese population and genotyped two polymorphisms (5-HTTLPR and 5-HTTVNTR). The LL homozygote of 5-HTTLPR and 10/10 homozygote of 5-HTTVNTR were both associated with a significantly increased risk of VSD-related ultrasonographic PAH. Haplotype analysis showed haplotype L-10 were also associated with a significant increased risk of ultrasonic PAH. These findings suggest that 5-HTT polymorphisms may play a role in the etiology of VSD-related possible PAH.

• 出版日期2009
• 单位南京医科大学