Significant association of XPD codon 312 single nucleotide polymorphism with bladder cancer susceptibility in Taiwan.
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.


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.


CONCLUSIONS
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.
Chang
Chao-Hsiang
CH
Department of Urology, Terry Fox Cancer Research Laboratory, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404 Taiwan, R.O.C.
Wang
Rou-Fen
RF
Tsai
Ru-Yin
RY
Wu
Hsi-Chin
HC
Wang
Chung-Hsing
CH
Tsai
Chia-Wen
CW
Chang
Chia-Lin
CL
Tsou
Yung-An
YA
Liu
Chiu-Shong
CS
Bau
Da-Tian
DT
D000483:Alleles; D016022:Case-Control Studies; D003062:Codon; D015331:Cohort Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D013624:Taiwan; D001749:Urinary Bladder Neoplasms / Q000235:genetics*; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics*
D003062:Codon; D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human