Abstract
The DNA repair gene X-ray cross-complementary group 4 (XRCC4), an important caretaker of the overall genome stability, is thought to play a major role in human tumorigenesis. We investigated the association between an important polymorphic variant of this gene at codon 247 (rs373409) and diffusely infiltrating astrocytoma (DIA) risk and prognosis. This hospital-based case-control study investigated this association in the Guangxi population. In total, 242 cases with DIA and 358 age-, sex-, and race-matched healthy controls were genotyped using TaqMan-PCR technique. We found a significant difference in the frequency of XRCC4 genotypes between cases and controls. Compared with the homozygote of XRCC4 codon 247 Ala alleles (XRCC4-AA), the genotypes of XRCC4 codon 247 Ser alleles (namely XRCC4-AS or -SS) increased DIA risk (odds ratios [OR], 1.82 and 2.89, respectively). Furthermore, XRCC4 polymorphism was correlated with tumor dedifferentiation of DIA (r = 0.261, p < 0.01). Additionally, this polymorphism modified the overall survival of DIA patients (the median survival times were 26, 14, and 8 months for patients with XRCC4-AA, -AS, and -SS, respectively). Like tumor grade, XRCC4 codon 247 polymorphism was an independent prognostic factor influencing the survival of DIA. These results suggest that XRCC4 codon 247 polymorphism may be associated with DIA risk and prognosis among the Guangxi population.
Highlights
Tumors from the central nervous system represent approximately 2% of all cancers, with an estimated 4.2 to 5.4 per 100,000 individuals affected per year [1,2]
According to the WHO grading standard of diffusely infiltrating astrocytoma (DIA), cases with IV-grade tumors accounted for 58.7% (142/242), whereas the frequencies of II-grade, and III-grade cases were 19.4% (47/242) and 21.9% (53/242), respectively
Logistic regression analysis showed that the adjusted odds ratio (OR) for DIA for those individuals carrying XRCC4-AS compared with those exhibiting the homozygote for Ala alleles (XRCC4-AA) was 1.82 (95% confidence interval [confidence intervals (CIs)], 1.13–2.94), and the corresponding OR for those featuring XRCC4-SS was 2.89 (95%CI, 1.62–15.15)
Summary
Tumors from the central nervous system represent approximately 2% of all cancers, with an estimated 4.2 to 5.4 per 100,000 individuals affected per year [1,2] Among these tumors, diffusely infiltrating astrocytoma (DIA) is the most common type, which comprises approximately 60% of primary brain tumors [1,3]. Epidemiological studies have shown that occupations, environmental carcinogens, diet, and ionizing radiation can elevate DIA risk [1,2,3,4,5] These factors can induce various types of DNA damage, including DNA double-strand breaks (DSBs) [6,7,8].
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