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Int. J. Environ. Res. Public Health 2017, 14(3), 266;

Role for Functional SOD2 Polymorphism in Pulmonary Arterial Hypertension in a Chinese Population

Department of Occupational Disease Prevention, Jiangsu Provincial Center for Disease Control and Prevention, No. 172 Jiangsu Road, Nanjing 210009, China
Jiangsu Province Official Hospital, Nanjing 210009, China
Department of Emergency, the First Affiliated Hospital with Nanjing Medical University, No. 300 Guangzhou Road, Nanjing 210029, China
Department of Public Health Sciences, University of North Carolina Charlotte, Charlotte, NC 28223, USA
Authors to whom correspondence should be addressed.
Academic Editor: Peter Clifton
Received: 11 December 2016 / Accepted: 23 February 2017 / Published: 6 March 2017
(This article belongs to the Section Global Health)
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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. View Full-Text
Keywords: SOD2; exonic polymorphism; susceptibility; pulmonary arterial hypertension SOD2; exonic polymorphism; susceptibility; pulmonary arterial hypertension

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Xu, M.; Xu, M.; Han, L.; Yuan, C.; Mei, Y.; Zhang, H.; Chen, S.; Sun, K.; Zhu, B. Role for Functional SOD2 Polymorphism in Pulmonary Arterial Hypertension in a Chinese Population. Int. J. Environ. Res. Public Health 2017, 14, 266.

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