title: Role for Functional SOD2 Polymorphism in Pulmonary Arterial Hypertension in a Chinese Population.
abstract: The superoxide dismutase 2 (SOD2) gene is a pivotal part of oxidative stress system, which could induce the onset of pulmonary arterial hypertension (PAH). In this study, we quantified the influence of a SOD2exonic polymorphism (rs4880) on PAH susceptibility. We genotyped this single nucleotide polymorphism (SNP) by TaqMan, and evaluated its association with PAH susceptibility in a case-control study of 460 patients and 530 controls in China. There were significant differences between PAH cases and controls in both CC and TC+CC genotypes (p = 0.013 and p = 0.010, respectively). Furthermore, the number of variant alleles followed a dose-response manner (p trend was 0.023). Besides, the mRNA level and protein expression also indicated that the C allele of this variant decreased the expression of SOD2 gene (p = 0.004 in mRNA level and p = 0.012 in protein level) after the transfection of plasmids containing the different genotype of rs4480. There is significant association between SOD rs4880 polymorphism and the PAH susceptibility, and this polymorphism influenced PAH susceptibility by altering the expression of SOD2.
authors.affiliation: Department of Occupational Disease Prevention, Jiangsu Provincial Center for Disease Control and Prevention, No. 172 Jiangsu Road, Nanjing 210009, China. sosolou@126.com.
authors.forename: Ming
authors.initials: M
authors.lastname: Xu
authors.affiliation: Jiangsu Province Official Hospital, Nanjing 210009, China. xumin1212@sina.com.
authors.forename: Min
authors.initials: M
authors.lastname: Xu
authors.affiliation: Department of Occupational Disease Prevention, Jiangsu Provincial Center for Disease Control and Prevention, No. 172 Jiangsu Road, Nanjing 210009, China. hanlei@jscdc.cn.
authors.forename: Lei
authors.initials: L
authors.lastname: Han
authors.affiliation: Department of Emergency, the First Affiliated Hospital with Nanjing Medical University, No. 300 Guangzhou Road, Nanjing 210029, China. hayc1987@163.com.
authors.forename: Chao
authors.initials: C
authors.lastname: Yuan
authors.affiliation: Department of Emergency, the First Affiliated Hospital with Nanjing Medical University, No. 300 Guangzhou Road, Nanjing 210029, China. njmumy11@163.com.
authors.forename: Yong
authors.initials: Y
authors.lastname: Mei
authors.affiliation: Department of Occupational Disease Prevention, Jiangsu Provincial Center for Disease Control and Prevention, No. 172 Jiangsu Road, Nanjing 210009, China. hd-zhang@263.net.
authors.forename: Hengdong
authors.initials: H
authors.lastname: Zhang
authors.affiliation: Department of Public Health Sciences, University of North Carolina Charlotte, Charlotte, NC 28223, USA. schen56@uncc.edu.
authors.forename: Shi
authors.initials: S
authors.lastname: Chen
authors.affiliation: Department of Emergency, the First Affiliated Hospital with Nanjing Medical University, No. 300 Guangzhou Road, Nanjing 210029, China. sunkai@njmu.edu.cn.
authors.forename: Kai
authors.initials: K
authors.lastname: Sun
authors.affiliation: Department of Occupational Disease Prevention, Jiangsu Provincial Center for Disease Control and Prevention, No. 172 Jiangsu Road, Nanjing 210009, China. zhbl5888@sina.com.
authors.forename: Baoli
authors.initials: B
authors.lastname: Zhu
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D060005:Genotyping Techniques; D006439:Hemodynamics; D006801:Humans; D006976:Hypertension, Pulmonary / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D018384:Oxidative Stress; D020641:Polymorphism, Single Nucleotide; D013482:Superoxide Dismutase / Q000235:genetics*; D000099156:Superoxide Dismutase 2
chemical_list: D013482:Superoxide Dismutase; D000099156:Superoxide Dismutase 2
keywords: SOD2; exonic polymorphism; pulmonary arterial hypertension; susceptibility