title: A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations.
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.
authors.affiliation: State Key Laboratory of Reproductive Medicine, School of Public Health, Nanjing Medical University, Nanjing, China. zhibin_hu@njmu.edu.cn
authors.forename: Zhibin
authors.initials: Z
authors.lastname: Hu
authors.forename: Yongyong
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authors.lastname: Shi
authors.forename: Xuming
authors.initials: X
authors.lastname: Mo
authors.forename: Jing
authors.initials: J
authors.lastname: Xu
authors.forename: Bijun
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authors.lastname: Zhao
authors.forename: Yuan
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authors.lastname: Lin
authors.forename: Shiwei
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authors.lastname: Yang
authors.forename: Zhengfeng
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authors.lastname: Xu
authors.forename: Juncheng
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authors.lastname: Dai
authors.forename: Shandong
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authors.lastname: Pan
authors.forename: Min
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authors.lastname: Da
authors.forename: Xiaowei
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authors.lastname: Wang
authors.forename: Bo
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authors.lastname: Qian
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authors.lastname: Wen
authors.forename: Juan
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authors.lastname: Wen
authors.forename: Jinliang
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authors.lastname: Xing
authors.forename: Xuejiang
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authors.lastname: Guo
authors.forename: Yankai
authors.initials: Y
authors.lastname: Xia
authors.forename: Hongxia
authors.initials: H
authors.lastname: Ma
authors.forename: Guangfu
authors.initials: G
authors.lastname: Jin
authors.forename: Shiqiang
authors.initials: S
authors.lastname: Yu
authors.forename: Jiayin
authors.initials: J
authors.lastname: Liu
authors.forename: Zuomin
authors.initials: Z
authors.lastname: Zhou
authors.forename: Xinru
authors.initials: X
authors.lastname: Wang
authors.forename: Yijiang
authors.initials: Y
authors.lastname: Chen
authors.forename: Jiahao
authors.initials: J
authors.lastname: Sha
authors.forename: Hongbing
authors.initials: H
authors.lastname: Shen
mesh_terms: D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D005260:Female; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D055106:Genome-Wide Association Study; D006330:Heart Defects, Congenital / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D012306:Risk; D054928:Validation Studies as Topic