期刊
NATURE COMMUNICATIONS
卷 6, 期 -, 页码 -出版社
NATURE RESEARCH
DOI: 10.1038/ncomms9082
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资金
- National Science Foundation for Distinguished Young Scholars of China [81225020]
- National Key Basic Research Program Grant [2013CB911400, 2011CB944304]
- National Natural Science Foundation of China [81300128]
- Foundation of Jiangsu Province for Distinguished Young Scholars [BK2012042]
- Jiangsu Natural Science Foundation [BK20131025, BK20130060]
- PhD Programs Foundation of Ministry of Education of China [20123234120015]
- National Program for Support of Top-notch Young Professionals from the Organization Department of the CPC Central Committee
- Jiangsu Province Clinical Science and Technology Projects [BL2012008]
- Priority Academic Program for the Development of Jiangsu Higher Education Institutions (Public Health and Preventive Medicine)
- Collaborative Innovation Center For Cancer Personalized Medicine in Jiangsu Province
- British Heart Foundation Personal Chair
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.
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