title: Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.
abstract: Esophageal squamous-cell carcinoma (ESCC) is one of the most prevalent cancers worldwide and occurs at a relatively high frequency in China. To identify genetic susceptibility loci for ESCC, we conducted a genome-wide association study on 2,031 individuals with ESCC (cases) and 2,044 controls of Chinese descent using 666,141 autosomal SNPs. We evaluated promising associations in an additional 6,276 cases and 6,165 controls of Chinese descent from different areas of China. We identified seven susceptibility loci on chromosomes 5q11, 6p21, 10q23, 12q24 and 21q22 (ranging from P = 7.48 × 10(-12) to P = 2.44 × 10(-31)); among these loci, 5q11, 6p21 and 21q22 were newly identified. Three variants in high linkage disequilibrium on 12q24 confer their risks to ESCC in a gene-lifestyle interaction manner, with more pronounced risk enhancement seen in tobacco and alcohol users. Furthermore, the identified variants had a cumulative association with ESCC risk (P(trend) = 7.92 × 10(-56)). These findings highlight the involvement of multiple genetic loci and gene-environment interaction in the development of esophageal cancer.
authors.affiliation: State Key Laboratory of Molecular Oncology, Cancer Institute & Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: Chen
authors.initials: C
authors.lastname: Wu
authors.forename: Zhibin
authors.initials: Z
authors.lastname: Hu
authors.forename: Zhonghu
authors.initials: Z
authors.lastname: He
authors.forename: Weihua
authors.initials: W
authors.lastname: Jia
authors.forename: Feng
authors.initials: F
authors.lastname: Wang
authors.forename: Yifeng
authors.initials: Y
authors.lastname: Zhou
authors.forename: Zhihua
authors.initials: Z
authors.lastname: Liu
authors.forename: Qimin
authors.initials: Q
authors.lastname: Zhan
authors.forename: Yu
authors.initials: Y
authors.lastname: Liu
authors.forename: Dianke
authors.initials: D
authors.lastname: Yu
authors.forename: Kan
authors.initials: K
authors.lastname: Zhai
authors.forename: Jiang
authors.initials: J
authors.lastname: Chang
authors.forename: Yan
authors.initials: Y
authors.lastname: Qiao
authors.forename: Guangfu
authors.initials: G
authors.lastname: Jin
authors.forename: Zhe
authors.initials: Z
authors.lastname: Liu
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Shen
authors.forename: Chuanhai
authors.initials: C
authors.lastname: Guo
authors.forename: Jianhua
authors.initials: J
authors.lastname: Fu
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Miao
authors.forename: Wen
authors.initials: W
authors.lastname: Tan
authors.forename: Hongbing
authors.initials: H
authors.lastname: Shen
authors.forename: Yang
authors.initials: Y
authors.lastname: Ke
authors.forename: Yixin
authors.initials: Y
authors.lastname: Zeng
authors.forename: Tangchun
authors.initials: T
authors.lastname: Wu
authors.forename: Dongxin
authors.initials: D
authors.lastname: Lin
mesh_terms: D044466:Asian People / Q000235:genetics*; D002294:Carcinoma, Squamous Cell / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D004938:Esophageal Neoplasms / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011379:Prognosis; D012307:Risk Factors