An updated meta-analysis of XRCC4 polymorphisms and cancer risk based on 31 case-control studies

Shao, Ningsheng; Jiang, Wangjie; Qiao, Dan; Zhang, Shi Ge; Wu, Ye; Zhang, Xiang Xiang; Li, Hua; Ding, Yi; Feng, Ning

doi:10.3233/cbm-120292

Cited by 17 publications

(16 citation statements)

References 12 publications

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“…The encoded protein of XRCC4 interacts directly with Ku70/Ku80 and plays a central role in the precise end-joining of blunt DSBs [10,22]. Mutations in the coding region of this gene might result in more deficient NHEJ capacity [23–25] and increase cancer risk [17–20]. To date, more than forty genetic polymorphisms based on mutations have been found in XRCC4, some of which are related to malignant tumors such as hepatocellular carcinoma [18,19], gastric cancer [26,27], oral cancer [20], bladder cancer [28], and esophageal cancer [29].…”

Section: Discussionmentioning

confidence: 99%

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DNA Repair Gene XRCC4 Codon 247 Polymorphism Modified Diffusely Infiltrating Astrocytoma Risk and Prognosis

Lin¹,

Chen²,

Wang³

et al. 2013

IJMS

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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.

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Section: Discussionmentioning

confidence: 99%

“…The genetic polymorphism at the code 247 of XRCC4 gene (rs3734091) has been reported to be associated with DNA repair capacity and various cancers [17], indicating that it might play an important role in various cancers [15,17–20]. However, the association between it and DIA has not yet been elucidated.…”

Section: Introductionmentioning

confidence: 99%

DNA Repair Gene XRCC4 Codon 247 Polymorphism Modified Diffusely Infiltrating Astrocytoma Risk and Prognosis

Lin¹,

Chen²,

Wang³

et al. 2013

IJMS

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“…While the T allele was associated with a higher risk of breast cancer (Fu et al 2003) and pancreatic cancer (Shen et al 2015), the G allele was associated with bladder cancer (Chang et al 2009). However, a meta-analysis of data from published studies of different cancer types failed to find any association of rs2075685 with cancer risk (Shao et al 2012(Shao et al /2013. Data on additional SNPs, also located in noncoding sequences of XRCC4 are similarly inconsistent, reporting a possible contribution to cancer susceptibility (Figueroa et al 2007;Hayden et al 2007;Shao et al 2012Shao et al /2013 or no effect on cancer risk (Chang et al 2009;Shao et al 2012Shao et al /2013.…”

Section: Snps In Genes Of Non-homologous End-joiningmentioning

confidence: 99%

“…However, a meta-analysis of data from published studies of different cancer types failed to find any association of rs2075685 with cancer risk (Shao et al 2012(Shao et al /2013. Data on additional SNPs, also located in noncoding sequences of XRCC4 are similarly inconsistent, reporting a possible contribution to cancer susceptibility (Figueroa et al 2007;Hayden et al 2007;Shao et al 2012Shao et al /2013 or no effect on cancer risk (Chang et al 2009;Shao et al 2012Shao et al /2013. A summary of studies investigating a possible association between XRCC4 SNPs and risk of multiple cancers is given by Wu et al (2008).…”

Section: Snps In Genes Of Non-homologous End-joiningmentioning

confidence: 99%

Single nucleotide polymorphisms in DNA repair genes and putative cancer risk

et al. 2016

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Single nucleotide polymorphisms (SNPs) are the most frequent type of genetic alterations between individuals. An SNP located within the coding sequence of a gene may lead to an amino acid substitution and in turn might alter protein function. Such a change in protein sequence could be functionally relevant and therefore might be associated with susceptibility to human diseases, such as cancer. DNA repair mechanisms are known to play an important role in cancer development, as shown in various human cancer syndromes, which arise due to mutations in DNA repair genes. This leads to the question whether subtle genetic changes such as SNPs in DNA repair genes may contribute to cancer susceptibility. In numerous epidemiological studies, efforts have been made to associate specific SNPs in DNA repair genes with altered DNA repair and cancer. The present review describes some of the common and most extensively studied SNPs in DNA repair genes and discusses whether they are functionally relevant and subsequently increase the likelihood that cancer will develop.

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“…The gene encoding X-ray repair crosscomplementation group4 (XRCC4; OMIM: 194363) play a role in repair of DSBs (14). The protein encoded by XRCC4 is composed of 336 amino acid residues distributed among 8 exons, and has a long helical stem domain, which accounts for multimerization and interaction with DNA ligase IV (15). A VNTR variant exists in intron 3 of the XRCC4 gene.…”

Section: Introductionmentioning

confidence: 99%

eNOS and XRCC4 VNTR variants contribute to formation of nicotine dependence and/or schizophrenia

Pehlıvan¹,

Uysal²,

Aydin³

et al. 2017

BLL

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BACKGROUND: This study aimed to evaluate whether VNTR variants in the Endothelial Nitric Oxide Synthase (eNOS) and the XRCC4 gene play any role in nicotine dependence (ND) and/or Schizophrenia+ND (Sch+ND) ethiopathogenesis. METHODS: Present study included 100 individuals with ND, 60 patients with Sch+ND, and 70 healthy controls. These variants were analyzed using PCR. RESULTS: The cases with ND had higher eNOS VNTR-BB genotype than the healthy control subjects (p = 0.001). eNOS-AA genotype was lower in cases with Sch+ND and ND groups compared to the controls (p = 0.001, p = 0.001, respectively). eNOS-B allele was found signifi cantly more frequently in Sch+ND group compared to the controls (p = 0.001). eNOS-A allele was signifi cantly lower in ND group than the controls (p = 0.001). XRCC4-ID genotype was more common in the ND group than the control group (p = 0.001) as heterozygosity disadvantage. XRCC4-DD genotype was more common in the Sch+ND group compared to the controls (p = 0.035). The frequency of XRCC4-I allele was lower in the Sch+ND group compared to the controls (p = 0.012). CONCLUSIONS: Our results showed that eNOS and XRCC4 VNTR variants might play a potential role in Sch+ND and/or ND pathophysiology (Tab. 2, Ref. 48). Text in PDF www.elis.sk.

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An updated meta-analysis of XRCC4 polymorphisms and cancer risk based on 31 case-control studies

Cited by 17 publications

References 12 publications

DNA Repair Gene XRCC4 Codon 247 Polymorphism Modified Diffusely Infiltrating Astrocytoma Risk and Prognosis

DNA Repair Gene XRCC4 Codon 247 Polymorphism Modified Diffusely Infiltrating Astrocytoma Risk and Prognosis

Single nucleotide polymorphisms in DNA repair genes and putative cancer risk

eNOS and XRCC4 VNTR variants contribute to formation of nicotine dependence and/or schizophrenia

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