Polymorphisms in nucleotide excision repair genes and risk of primary prostate cancer in Chinese Han populations

Abstract

Genetic variants of nucleotide excision repair (NER) genes have been extensively investigated for their roles in the development of prostate cancer (PCa); however, the published results have been inconsistent. In a hospital-based case-control study of 1,004 PCa cases and 1,055 cancer-free controls, we genotyped eight potentially functional single nucleotide polymorphisms (SNPs) of NER genes (i.e., XPC, rs2228001 T>G and rs1870134 G>C; XPD, rs13181 T>G and rs238406 G>T; XPG, rs1047768 T>C, rs751402 C>T, and rs17655 G>C; and XPF, rs2276464 G>C) and assessed their associations with risk of PCa by using logistic regression analysis. Among these eight SNPs investigated, only XPC rs1870134 CG/CC variant genotypes were associated with a decreased risk of prostate cancer under a dominant genetic model (adjusted odds ratio [OR] = 0.77, 95% confidence interval [CI] = 0.64–1.91, P = 0.003). Phenotype-genotype analysis also suggested that the XPC rs1870134 CG/CC variant genotypes were associated with significantly decreased expression levels of XPC mRNA in a mix population of different ethnicities. These findings suggested that XPC SNPs may contribute to risk of PCa in Eastern Chinese men.

Association between NER Pathway Gene Polymorphisms and Wilms Tumor Risk

“…Moreover, excision repair cross-complementation group 1 (ERCC1), replication protein A (RPA), RAD23 homolog A (RAD23A), and RAD23 homolog B (RAD23B) also participate in NER 7 . SNPs in NER genes have been linked to various cancer types, including lung, bladder, skin, breast, prostate, and head and neck cancers 8, 9, 10, 11, 12, 13, 14, 15, 16. Accumulating evidence has indicated that some SNPs in DNA repair genes or their regulatory elements can induce phenotypical alterations, affecting DNA repair capacity and promoting cancer initiation and development.…”

XPGgene rs751402 C>T polymorphism and cancer risk: Evidence from 22 publications

“…In these publications, sample sizes ranged from 96 to 1900 cases and from 101 to 1977 control subjects. Among the studies, 10 focused on gastric cancer [ 21 , 23 , 27 , 29 , 30 , 32 – 34 , 38 , 39 ], three focused on breast cancer [ 25 , 35 , 36 ], two focused on hepatocellular carcinoma [ 20 , 37 ], and one each focused on lung cancer [ 19 ], oral squamous cell carcinoma [ 22 ], salivary gland tumor [ 24 ], nasopharyngeal carcinoma [ 26 ], neuroblastoma [ 28 ], colorectal cancer [ 31 ], and prostate cancer [ 40 ]. Of the publications, 12 had quality scores higher than nine, and 10 had quality scores of no more than nine.…”

“…Thus, most of the investigations were focused on rs17655 G>C (Asp1104His). The association between XPG gene rs751402 C>T polymorphism (located at the 5′ untranslational region) and cancer risk has been investigated in several studies [ 19 – 40 ], but the findings were contradictory and inconclusive. Therefore, we performed this meta-analysis with all eligible publications to comprehensively evaluate the association of XPG gene rs751402 C>T polymorphism with overall cancer risk.…”

A case-control study on association of nucleotide excision repair polymorphisms and its interaction with environment factors with the susceptibility to non-melanoma skin cancer

“…However, we did not find any direct association of the rs4134822 and rs1799793 with NMSC risk after covariates adjustment. Previously, many studies have focused on the association between NER gene and some other diseases, including prostate cancer [ 19 ], gastric cancer [ 20 ] and thyroid cancer [ 21 ]. Several studies [ 11 – 15 ] were also performed on association between SNPs within NER gene and NMSC risks, but the limited number for these articles could not concluded a consistent result on this association, and could not clarify the mechanism between NER gene and NMSC susceptibility.…”