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PMID: 23708190 Published · ppublish English Journal Article Multicenter Study Research Support, Non-U.S. Gov't

A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations.

Nature genetics ·Vol. 45 ·No. 7 ·2013-07-00 ·Pages 818-21

Hu Z, Shi Y, Mo X, Xu J, Zhao B, Lin Y, Yang S, Xu Z, Dai J, Pan S, Da M, Wang X, Qian B, Wen Y, Wen J, Xing J, Guo X, Xia Y, Ma H, Jin G, Yu S, Liu J, Zhou Z, Wang X, Chen Y, Sha J, Shen H

Abstract

Congenital heart malformation (CHM) is the most common form of congenital human birth anomaly and is the leading cause of infant mortality. Although some causative genes have been identified, little progress has been made in identifying genes in which low-penetrance susceptibility variants occur in the majority of sporadic CHM cases. To identify common genetic variants associated with sporadic non-syndromic CHM in Han Chinese populations, we performed a multistage genome-wide association study (GWAS) in a total of 4,225 CHM cases and 5,112 non-CHM controls. The GWAS stage included 945 cases and 1,246 controls and was followed by 2-stage validation with 2,160 cases and 3,866 controls. The combined analyses identified significant associations (P < 5.0 × 10⁻⁸) at 1p12 (rs2474937 near TBX15; odds ratio (OR) = 1.40; P = 8.44 × 10⁻¹⁰) and 4q31.1 (rs1531070 in MAML3; OR = 1.40; P = 4.99 × 10⁻¹²). These results extend current knowledge of genetic contributions to CHM in Han Chinese populations.

MeSH Terms
Asians/genetics Case-Control Studies Chromosomes, Human, Pair 1/genetics Chromosomes, Human, Pair 4/genetics Female Genetic Loci Genetic Predisposition to Disease Genetics, Population Genome-Wide Association Study Heart Defects, Congenital/ethnology,genetics Humans Male Polymorphism, Single Nucleotide/physiology Risk Validation Studies as Topic
Authors & Affiliations
27 authors, click to expand affiliations / ORCID
Hu Zhibin
State Key Laboratory of Reproductive Medicine, School of Public Health, Nanjing Medical University, Nanjing, China. [email protected]
Shi Yongyong
Mo Xuming
Xu Jing
Zhao Bijun
Lin Yuan
Yang Shiwei
Xu Zhengfeng
Dai Juncheng
Pan Shandong
Da Min
Wang Xiaowei
Qian Bo
Wen Yang
Wen Juan
Xing Jinliang
Guo Xuejiang
Xia Yankai
Ma Hongxia
Jin Guangfu
Yu Shiqiang
Liu Jiayin
Zhou Zuomin
Wang Xinru
Chen Yijiang
Sha Jiahao
Shen Hongbing
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Article Info
Journal
Nature genetics
Abbr.
Nat Genet
ISSN
1546-1718
DOI
10.1038/ng.2636
Email
[email protected]
Published
2013-07-00
Epub
2013-00-26
Pages
818-21
Language
English
Region
United States
NLM ID
9216904
Subset
IM
External Links
PubMed source DOI: 10.1038/ng.2636 View journal details
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