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

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-contr...

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Main Authors: 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
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0089636&type=printable
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author 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
author_facet 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
author_sort Jing Xu
collection DOAJ
description 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.
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spelling doaj-art-76b0dbc31f7d4650b9035901d1b584bf2025-08-20T02:15:23ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0193e8963610.1371/journal.pone.0089636Genetic variants at 10p11 confer risk of Tetralogy of Fallot in Chinese of Nanjing.Jing XuYuan LinLinjie SiGuangfu JinJuncheng DaiCheng WangJiaping ChenMin DaYuanli HuChenlong YiZhibin HuHongbing ShenXuming MoYijiang ChenXiaowei WangA 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.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0089636&type=printable
spellingShingle 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
Genetic variants at 10p11 confer risk of Tetralogy of Fallot in Chinese of Nanjing.
PLoS ONE
title Genetic variants at 10p11 confer risk of Tetralogy of Fallot in Chinese of Nanjing.
title_full Genetic variants at 10p11 confer risk of Tetralogy of Fallot in Chinese of Nanjing.
title_fullStr Genetic variants at 10p11 confer risk of Tetralogy of Fallot in Chinese of Nanjing.
title_full_unstemmed Genetic variants at 10p11 confer risk of Tetralogy of Fallot in Chinese of Nanjing.
title_short Genetic variants at 10p11 confer risk of Tetralogy of Fallot in Chinese of Nanjing.
title_sort genetic variants at 10p11 confer risk of tetralogy of fallot in chinese of nanjing
url https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0089636&type=printable
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