title: Polymorphisms of DNA repair genes: ERCC1 G19007A and ERCC2/XPD C22541A in a northeastern Chinese population.
abstract: DNA repair systems are responsible for maintaining the integrity of the genome and have a critical role in protecting against mutations that can lead to cancer. DNA repair gene products of ERCC1 and ERCC2/XPD are involved in the nucleotide excision repair pathway. The allele frequencies of the polymorphisms ERCC1 G19007A and ERCC2/XPD C22541A were examined in a northeastern Chinese population. The allele frequencies were 0.21 (A) and 0.79 (G) for ERCC1 G19007A and 0.49 (A) and 0.51 (C) for ERCC2/XPD C22541A. Comparison with average frequencies from previously reported Caucasian studies demonstrated that the A-allele frequency of ERCC1 G19007A was much lower in the northeastern Chinese population, indicating a remarkable ethnic difference (chi((1)) (2) = 160.09, p < 0.001), and that allele frequencies of ERCC2/XPD C22541A showed marginal racial differences (chi((1)) (2) = 4.36, p = 0.04). We have previously reported that both homozygote carriers of the A-allele as well as homozygous carriers of a high-risk haplotype (which includes the AA genotype in ERCC1 G19007A) were at increased risk of basal cell carcinoma, breast cancer, and lung cancer among Caucasians. The low A-allele frequency of ERCC1 G19007A in the Chinese population may suggest that the genetic contribution to cancer risk differs substantially between ethnic groups.
authors.affiliation: Institute of Cell Biology, Zhejiang University, Hangzhou, 310031, Zhejiang, P.R. China. lijc@mail.hz.zj.cn
authors.forename: Jiaoyang
authors.initials: J
authors.lastname: Yin
authors.forename: Jicheng
authors.initials: J
authors.lastname: Li
authors.forename: Ulla
authors.initials: U
authors.lastname: Vogel
authors.forename: Huiwen
authors.initials: H
authors.lastname: Wang
mesh_terms: D000483:Alleles; D002681:China / Q000453:epidemiology; D004260:DNA Repair / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D004720:Endonucleases / Q000235:genetics*; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D009369:Neoplasms / Q000453:epidemiology / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C071447:ERCC1 protein, human; D004720:Endonucleases; D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human