Genetic variants at 10p11 confer risk of Tetralogy of Fallot in Chinese of Nanjing

Jing Xu; Yuan Lin; Linjie Si; Guangfu Jin; Juncheng Dai; Cheng Wang; Jiaping Chen; Min Da; Yuanli Hu; Chenlong Yi; Zhibin Hu; Hongbing Shen; Xuming Mo; Yijiang Chen; Xiaowei Wang

doi:10.1371/journal.pone.0089636

Genetic variants at 10p11 confer risk of Tetralogy of Fallot in Chinese of Nanjing

PLoS One. 2014 Mar 3;9(3):e89636. doi: 10.1371/journal.pone.0089636. eCollection 2014.

Authors

Jing Xu¹, Yuan Lin², Linjie Si¹, Guangfu Jin², Juncheng Dai², Cheng Wang², Jiaping Chen², Min Da³, Yuanli Hu³, Chenlong Yi¹, Zhibin Hu², Hongbing Shen², Xuming Mo³, Yijiang Chen¹, Xiaowei Wang¹

Affiliations

¹ Department of Thoracic and Cardiovascular Surgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
² State Key Laboratory of Reproductive Medicine, School of Public Health, Nanjing Medical University, Nanjing, China; Department of Epidemiology and Biostatistics and Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing, China.
³ Department of Cardiothoracic Surgery, Nanjing Children's Hospital, Nanjing Medical University, Nanjing, China.

Abstract

A recent genome-wide association study (GWAS) has identified a new subset of susceptibility loci of Tetralogy of Fallot (TOF), one form of cyanotic congenital heart disease (CHD), on chromosomes 10p11, 10p14, 12q24, 13q31, 15q13 and 16q12 in Europeans. In the current study, we conducted a case-control study in a Chinese population including 1,010 CHD cases [atrial septal defect (ASD), ventricular septal defect (VSD) and TOF] and 1,962 controls to evaluate the associations of these loci with risk of CHD. We found that rs2228638 in NRP1 on 10p11 was significantly increased the risk of TOF (OR = 1.52, 95% CI = 1.13-2.04, P = 0.006), but not in other subgroups including ASD and VSD. In addition, no significant associations were observed between the other loci and the risk of ASD, VSD or TOF. Our results suggested that the genetic variants on 10p11 may serve as candidate markers for TOF susceptibility in Chinese population.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

China
Chromosomes, Human, Pair 10*
Genetic Predisposition to Disease*
Genetic Variation*
Genotype
Humans
Polymorphism, Single Nucleotide
Tetralogy of Fallot / genetics*

Grants and funding

This work was supported in part by National Natural Science Foundation of China (Grant numbers: 81300128, 81170158); Ph.D. Programs Foundation of Ministry of Education of China (Grant numbers: 20123234120015); Jiangsu Natural Science Foundation (Grant number: BK20131025); Natural Science Foundation of Jiangsu Higher Education Institutions (Grant numbers:12KJB320003); Science and Technology Supporting Project in Xinjiang Province (Grant numbers:2013911121); The Project Sponsored by Scientific Research Foundation for Returned Overseas Chinese Scholars, State Education Ministry; The Project Funded by the Priority Academic Program Development of Jiangsu Higher Education Institutions. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.