Association between ERCC1 C8092A and ERCC2 K751Q polymorphisms and risk of adult glioma: a meta-analysis

Abstract

While the ERCC1 C8092A and ERCC2 K751Q polymorphisms have received much attention for their potential associations with adult glioma risk, inferences from such studies are hindered by their limited statistical power and conflicting results. The aim of this meta-analysis is to provide a relatively comprehensive account of the association between these two polymorphisms and adult glioma risk. A literature search for eligible studies published before September 1, 2013 was conducted in PubMed, Embase, Web of Science, Cochrane Library, and CNKI databases. Pooled odds ratios (ORs) with their corresponding 95% confidence intervals (95% CIs) were used to evaluate the strength of the association under a fixed or random effect model according to heterogeneity test results. All analyses were performed using STATA software, version 12.0. Ten case-control studies were included in this meta-analysis, with a total of 5,843 adult glioma patients and 8,139 healthy controls. For ERCC1 C8092A (dbSNP: rs3212986, C>A), the combined results show that carriers of the AA genotype may be associated with a higher risk of adult glioma than carriers of the CA and CC genotypes. Stratified analyses show that the magnitude of the effect was especially significant among Asians, indicating ethnicity differences in adult glioma susceptibility. For ERCC2 K751Q (dbSNP: rs13181, A>C), the pooled ORs were not significant in the overall population, although all of the ORs were greater than 1. However, Asians seem to be significantly more susceptible to adult glioma than Caucasians. The results of this meta-analysis indicate that the AA genotype of ERCC1 C8092A may be associated with a higher risk of adult glioma than the CA and CC genotypes and that the risk allele of ERCC2 K751Q confers a significant susceptibility to adult glioma, especially in Asian populations. These polymorphisms may be used along with other genetic markers to identify individuals at high risk for adult glioma.

A Comprehensive Analysis of Influence ERCC Polymorphisms Confer on the Development of Brain Tumors

“…In an earlier quantitative assessment looking at the relationship of rs13181 and rs3212986 to adult glioma, Xu et al found an elevated risk among subjects of Asian ancestry attributable to the former polymorphism and a similar increase for the latter polymorphism [44]. Almost at the same time, Yuan et al associated rs11615 and rs3212986 with glioma and observed a main effect particularly in Asian [45].…”

Association between interleukin 8–251 T/A and +781 C/T polymorphisms and glioma risk

“…A study by Yuan et al suggested that common variants in ERCC1 may contribute to susceptibility to glioma, especially in Asians [ 24 ]. The AA genotype of ERCC1 C8092A might be associated with a higher risk of adult glioma than the CA and CC genotypes and that the risk allele of ERCC2 K751Q confered a significant susceptibility to adult glioma, especially in Asian populations [ 25 ]. Strong evidence for the association between XRCC3 C18607T polymorphism and glioma risk was found in a meta-analysis [ 26 ].…”

Genetic intersection of male infertility and cancer

“…DNA variants in MLH1 , which is involved in mismatch repair systems, are known to cause the hereditary cancer disorder ‘Lynch syndrome’ and also confer susceptibility to azoospermia and oligozoospermia (58, 59). Interestingly, an identical mutation C8092A (rs3212986) in the DNA base excision repair gene ERCC1 has independently been linked to both idiopathic azoospermia (60) and various types of cancer, including breast carcinoma, head and neck carcinoma and adult glioma (61–63). No studies have performed a mutational screening of these genes in male infertility cases with cancer as a comorbid state.…”