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

Lookup NU author(s): Professor Bernard Keavney, Professor Judith Goodship, Professor Heather Cordell


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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 x 10(-8)) evidence of 4 additional CHD susceptibility loci at 4q31.22 (rs1400558, upstream of EDNRA, P-all = 1.63 x 10(-9)), 9p24.2 (rs7863990, close to SMARCA2, P-all = 3.71 x 10(-14)), 12q24.13 (rs2433752, upstream of TBX3 and TBX5, P-all = 1.04 x 10(-10)) and 20q12 (rs490514, in PTPRT, P-all = 1.20 x 10(-13)). Moreover, the data from previous European GWAS supports that rs490514 is associated with the risk of CHD (P = 3.40 x 10(-3)). These results enhance our understanding of CHD susceptibility.

Publication metadata

Author(s): Lin Y, Guo XJ, Zhao BJ, Liu JJ, Da M, Wen Y, Hu YL, Ni BX, Zhang K, Yang SW, Xu J, Dai JC, Wang XW, Xia YK, Ma HX, Jin GF, Yu SQ, Liu JY, Keavney BD, Goodship JA, Cordell HJ, Wang XR, Shen HB, Sha JH, Zhou ZM, Chen YJ, Mo XM, Luo LF, Hu ZB

Publication type: Article

Publication status: Published

Journal: Nature Communications

Year: 2015

Volume: 6

Online publication date: 18/08/2015

Acceptance date: 15/07/2015

ISSN (electronic): 2041-1723

Publisher: Nature Publishing Group


DOI: 10.1038/ncomms9082


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Funder referenceFunder name
Collaborative Innovation Center For Cancer Personalized Medicine in Jiangsu Province
National Program for Support of Top-notch Young Professionals from the Organization Department of the CPC Central Committee
Priority Academic Program for the Development of Jiangsu Higher Education Institutions (Public Health and Preventive Medicine)
British Heart Foundation Personal Chair
2013CB911400National Key Basic Research Program Grant
2011CB944304National Key Basic Research Program Grant
20123234120015PhD Programs Foundation of Ministry of Education of China
81225020National Science Foundation for Distinguished Young Scholars of China
81300128National Natural Science Foundation of China
BK2012042Foundation of Jiangsu Province for Distinguished Young Scholars
BL2012008Jiangsu Province Clinical Science and Technology Projects
BK20130060Jiangsu Natural Science Foundation
BK20131025Jiangsu Natural Science Foundation