Details

Autor(en) / Beteiligte

• Lin, Yuan
• Guo, Xuejiang
• Zhao, Bijun
• Liu, Juanjuan
• Da, Min
• Wen, Yang
• Hu, Yuanli
• Ni, Bixian
• Zhang, Kai
• Yang, Shiwei
• Xu, Jing
• Dai, Juncheng
• Wang, Xiaowei
• Xia, Yankai
• Ma, Hongxia
• Jin, Guangfu
• Yu, Shiqiang
• Liu, Jiayin
• Keavney, Bernard D.
• Goodship, Judith A.
• Cordell, Heather J.
• Wang, Xinru
• Shen, Hongbing
• Sha, Jiahao
• Zhou, Zuomin
• Chen, Yijiang
• Mo, Xuming
• Luo, Lingfei
• Hu, Zhibin

Titel

Association analysis identifies new risk loci for congenital heart disease in Chinese populations

Ist Teil von

• Nature communications, 2015-08, Vol.6 (1), p.8082, Article 8082

Ort / Verlag

London: Nature Publishing Group UK

Erscheinungsjahr

2015

Quelle

MEDLINE

Beschreibungen/Notizen

• Our previous genome-wide association study (GWAS) identified two susceptibility loci for congenital heart disease (CHD) in Han Chinese. Here we identify additional loci by testing promising associations in an extended 3-stage validation consisting of 6,053 CHD cases and 7,410 controls. We find GW significant ( P <5.0 × 10 −8 ) evidence of 4 additional CHD susceptibility loci at 4q31.22 (rs1400558, upstream of EDNRA , P all =1.63 × 10 −9 ), 9p24.2 (rs7863990, close to SMARCA2 , P all =3.71 × 10 −14 ), 12q24.13 (rs2433752, upstream of TBX3 and TBX5 , P all =1.04 × 10 −10 ) and 20q12 (rs490514, in PTPRT , P all =1.20 × 10 −13 ). Moreover, the data from previous European GWAS supports that rs490514 is associated with the risk of CHD ( P =3.40 × 10 −3 ). These results enhance our understanding of CHD susceptibility. Genome-wide association studies in Chinese and Europeans have identified multiple loci associated with congenital heart disease. Here the authors use existing GWAS data to conduct an extended three-stage analysis in Han Chinese and identify four novel loci linked to disease risk in this population.