Journal Article

Ala499Val (C > T) and Lys939Gln (A > C) polymorphisms of the XPC gene: their correlation with the risk of primary gallbladder adenocarcinoma—a case–control study in China

Xingyuan Jiao, Jianlin Ren, Hongyuan Chen, Jinping Ma, Shaoqi Rao, Ke Huang, Shengli Wu, Jian Fu, Xiaokang Su, Canqiao Luo, Jinsen Shi and Christoph E.Broelsch

in Carcinogenesis

Volume 32, issue 4, pages 496-501
Published in print April 2011 | ISSN: 0143-3334
Published online November 2010 | e-ISSN: 1460-2180 | DOI: http://dx.doi.org/10.1093/carcin/bgq250
Ala499Val (C > T) and Lys939Gln (A > C) polymorphisms of the XPC gene: their correlation with the risk of primary gallbladder adenocarcinoma—a case–control study in China

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Genetic variations in the gene XPC may be associated with increased risk for gallbladder cancer (GBC). In this study, we detected two non-synonymous polymorphisms in XPC (Ala499Val and Lys939Gln) in 334 cases of GBC and 329 subjects of hospital-based age- and sex frequency-matched controls in China using a polymerase chain reaction–restriction fragment length polymorphism assay. Allelic association analysis for the two single-nucleotide polymorphisms (SNPs) showed that the risk allele T of Ala499Val was significantly associated with GBC [odds ratio (OR) = 1.40, 95% confidence interval (CI): 1.11–1.76, P = 0.005), with a population attributive risk of 5.3%. Logistic regression analysis revealed that Ala499Val CT heterozygote (OR = 1.56, 95% CI: 1.13–2.14, P = 0.002) and TT homozygote (OR = 1.93, 95% CI: 1.04–3.55, P = 0.048) had a significantly increased risk compared with CC homozygotes. Genetic analysis suggested that either the SNPs directly exert an effect or the linked functional gene impact of the disease trait likely follows an additive or dominant model. Gene interaction analysis demonstrated that the effects of XPC diplotypes (defined as the number of risk genotypes at the two SNP loci) were highly dependent on gallstone. The data from this case–control study indicated that XPC exonic variants contributed to the risk of GBC in this Chinese population.

Journal Article.  4718 words.  Illustrated.

Subjects: Clinical Cytogenetics and Molecular Genetics

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