title: Association study of serotonin transporter gene polymorphisms and ventricular septal defects related possible pulmonary arterial hypertension in Chinese population.
abstract: 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.
authors.affiliation: Department of Thoracic & Cardiovascular Surgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
authors.forename: Hailong
authors.initials: H
authors.lastname: Cao
authors.forename: Haiyong
authors.initials: H
authors.lastname: Gu
authors.forename: Wanshan
authors.initials: W
authors.lastname: Qiu
authors.forename: Weisong
authors.initials: W
authors.lastname: Zuo
authors.forename: Liang
authors.initials: L
authors.lastname: Zheng
authors.forename: Zhanwei
authors.initials: Z
authors.lastname: Wang
authors.forename: Zhibin
authors.initials: Z
authors.lastname: Hu
authors.forename: Yijiang
authors.initials: Y
authors.lastname: Chen
mesh_terms: D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D004452:Echocardiography; D005260:Female; D006239:Haplotypes; D006345:Heart Septal Defects, Ventricular / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D006976:Hypertension, Pulmonary / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics*; D054643:INDEL Mutation; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D018598:Minisatellite Repeats; D011110:Polymorphism, Genetic; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*
chemical_list: C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins