Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations
Male
China
Esophageal Neoplasms
Chromosomes, Human, Pair 21
Middle Aged
Prognosis
Polymorphism, Single Nucleotide
3. Good health
03 medical and health sciences
0302 clinical medicine
Asian People
Genetic Loci
Risk Factors
Case-Control Studies
Carcinoma, Squamous Cell
Chromosomes, Human, Pair 5
Humans
Chromosomes, Human, Pair 6
Female
Genetic Predisposition to Disease
Genome-Wide Association Study
DOI:
10.1038/ng.849
Publication Date:
2011-06-05T18:42:53Z
AUTHORS (25)
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.
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