title: DNA repair gene XRCC4 codon 247 polymorphism modified diffusely infiltrating astrocytoma risk and prognosis.
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.
authors.affiliation: Department of Neurology Medicine, Xia-Men Hospital of Traditional Chinese Medicine, Xiamen 361009, China. forestlzh@aliyun.com.
authors.forename: Zhong-Hui
authors.initials: ZH
authors.lastname: Lin
authors.affiliation: Department of Neurology Medicine, Xia-Men Hospital of Traditional Chinese Medicine, Xiamen 361009, China. fjchenjc@163.com.
authors.forename: Jin-Chun
authors.initials: JC
authors.lastname: Chen
authors.affiliation: Department of Neurology Medicine, Xia-Men Hospital of Traditional Chinese Medicine, Xiamen 361009, China. fjxmwangsy@163.com.
authors.forename: Yun-Sun
authors.initials: YS
authors.lastname: Wang
authors.affiliation: Department of Neurology Medicine, Xia-Men Hospital of Traditional Chinese Medicine, Xiamen 361009, China. xmwangtj@163.com.
authors.forename: Teng-Jiao
authors.initials: TJ
authors.lastname: Huang
authors.affiliation: Department of Neurology Medicine, Xia-Men Hospital of Traditional Chinese Medicine, Xiamen 361009, China. gxwjmc1986@163.com.
authors.forename: Jin
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Neurology Medicine, Xia-Men Hospital of Traditional Chinese Medicine, Xiamen 361009, China. sjtulongxd@263.net.
authors.forename: Xi-Dai
authors.initials: XD
authors.lastname: Long
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D000483:Alleles; D001254:Astrocytoma / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality; D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality; D016022:Case-Control Studies; D003062:Codon; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009367:Neoplasm Staging; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D012307:Risk Factors
chemical_list: D003062:Codon; D004268:DNA-Binding Proteins; C101467:XRCC4 protein, human