Significant Association of XPD Codon 312 Single Nucleotide Polymorphism with Bladder Cancer Susceptibility in Taiwan

• Published in: Anticancer research Vol. 29; no. 10; pp. 3903 - 3907
• Main Authors: CHANG, Chao-Hsiang, WANG, Rou-Fen, TSAI, Ru-Yin, WU, Hsi-Chin, WANG, Chung-Hsing, TSAI, Chia-Wen, CHANG, Chia-Lin, TSOU, Yung-An, LIU, Chiu-Shong, BAU, Da-Tian
• Format: Journal Article
• Language: English
• Published: Attiki International Institute of Anticancer Research 01.10.2009
• Subjects: Alleles; Biological and medical sciences; Case-Control Studies; Codon; Cohort Studies; Genetic Predisposition to Disease; Genotype; Humans; Medical sciences; Nephrology. Urinary tract diseases; Polymorphism, Single Nucleotide; Taiwan; Tumors; Tumors of the urinary system; Urinary Bladder Neoplasms - genetics; Urinary tract. Prostate gland; Xeroderma Pigmentosum Group D Protein - genetics; Asia; Taiwan; Urinary system disease; Genetic variability; Genotype; Nucleotide excision repair; Urinary tract disease; Malignant tumor; Bladder cancer; DNA repair; XPD; Repair gene; Cancerology; Codon; DNA; Bladder disease; Single nucleotide polymorphism; Cancer
• ISSN: 0250-7005; 1791-7530

Background: The DNA repair gene xeroderma pigmentosum group D (XPD), an important caretaker of the overall genome stability, is thought to play a major role in the development of human malignancy. Polymorphic variants of XPD, at codon 312 (rs1799793), 751 (rs13181) and promoter-114 (rs3810366), were chosen to be studied for their association with bladder cancer susceptibility in a central Taiwanese population. Patients and Methods: In this hospital-based case-control study, bladder cancer patients (308) and age- and gender-matched healthy controls (308) were recruited and their genotypes were analyzed by a polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) method. Results: A significant difference in the frequency of the XPD codon 312 genotype, but not the XPD codon 751 or promoter-114 genotypes, was found between the bladder cancer and control groups. Those who had G/A or A/A at XPD codon 312 showed a 1.85-fold (95% confidence interval=1.34-2.56) increased risk of bladder cancer compared to those with G/G. As for XPD codon 312 and promoter-114, there was no difference in distribution between the bladder cancer and control groups. Conclusion: The heterozygous and homozygous A allele of the XPD codon 312 may be responsible for bladder carcinogenesis and useful in the early detection and prediction of bladder cancer.