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.
Department of Urology, Terry Fox Cancer Research Laboratory, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404 Taiwan, R.O.C.
Chao-Hsiang
CH
Chang
Rou-Fen
RF
Wang
Ru-Yin
RY
Tsai
Hsi-Chin
HC
Wu
Chung-Hsing
CH
Wang
Chia-Wen
CW
Tsai
Chia-Lin
CL
Chang
Yung-An
YA
Tsou
Chiu-Shong
CS
Liu
Da-Tian
DT
Bau
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