Xu Jing, Lin Yuan, Si Linjie, Jin Guangfu, Dai Juncheng, Wang Cheng, Chen Jiaping, Da Min, Hu Yuanli, Yi Chenlong, Hu Zhibin, Shen Hongbing, Mo Xuming, Chen Yijiang, Wang Xiaowei
Department of Thoracic and Cardiovascular Surgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
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.
PLoS One. 2014 Mar 3;9(3):e89636. doi: 10.1371/journal.pone.0089636. eCollection 2014.
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.
最近一项全基因组关联研究（GWAS）在欧洲人群中，于染色体10p11、10p14、12q24、13q31、15q13和16q12上确定了法洛四联症（TOF）（一种青紫型先天性心脏病（CHD））易感性位点的一个新子集。在本研究中，我们在中国人群中开展了一项病例对照研究，纳入了1010例CHD病例[房间隔缺损（ASD）、室间隔缺损（VSD）和TOF]和1962例对照，以评估这些位点与CHD风险的关联。我们发现，位于10p11的NRP1基因中的rs2228638显著增加了TOF的风险（比值比（OR）=1.52，95%置信区间（CI）=1.13 - 2.04，P = 0.006），但在包括ASD和VSD在内的其他亚组中未出现这种情况。此外，未观察到其他位点与ASD、VSD或TOF风险之间存在显著关联。我们的结果表明，10p11上的基因变异可能是中国人群中TOF易感性的候选标记。
