Investigation of the effects of single-nucleotide polymorphisms in DNA repair genes on the risk of glioma

Gao, Kelly L.; Mu, Shijie; Wu, Zhen

doi:10.4238/2014.february.27.5

Cited by 16 publications

(11 citation statements)

References 23 publications

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“…Among them, the majority were excluded after the first screening based on abstracts or titles, mainly because they were overlapped citations, not relevant to the XRCC1 polymorphisms and glioma risk, reviews, conference abstracts, or not a related gene polymorphism. Afterwards, a total of 19 full-text articles [16]–[28], [37]–[42] were preliminarily identified for further detailed evaluation (Figure 1). Of these, 10 studies were excluded [16]–[25] because the country of source was not from China.…”

Section: Resultsmentioning

confidence: 99%

“…Of these, 10 studies were excluded [16]–[25] because the country of source was not from China. Eventually, nine case-control studies [26]–[28], [37]–[42] were selected, including 8 studies for the Arg399Gln polymorphism (3062 cases and 3362 controls), 8 studies for the Arg194Trp polymorphism (3419 cases and 3680 controls), and 5 studies for the Arg280His polymorphism (2234 cases and 2380 controls). With respect to the assessment of study quality, the vast majority of the included studies were high quality (shown in Table S2) except for the study by Liu et al [41].…”

Section: Resultsmentioning

confidence: 99%

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XRCC1 Gene Polymorphisms and Glioma Risk in Chinese Population: A Meta-Analysis

Shi

Jiang

et al. 2014

PLoS ONE

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BackgroundThree extensively investigated polymorphisms (Arg399Gln, Arg194Trp, and Arg280His) in the X-ray repair cross-complementing group 1 (XRCC1) gene have been implicated in risk for glioma. However, the results from different studies remain inconsistent. To clarify these conflicts, we performed a quantitative synthesis of the evidence to elucidate these associations in the Chinese population.MethodsData were extracted from PubMed and EMBASE, with the last search up to August 21, 2014. Meta-analysis was performed by critically reviewing 8 studies for Arg399Gln (3062 cases and 3362 controls), 8 studies for Arg194Trp (3419 cases and 3680 controls), and 5 studies for Arg280His (2234 cases and 2380 controls). All of the statistical analyses were performed using the software program, STATA (version 11.0).ResultsOur analysis suggested that both Arg399Gln and Arg194Trp polymorphisms were significantly associated with increased risk of glioma (for Arg399Gln polymorphism: Gln/Gln vs. Arg/Arg, OR = 1.82, 95% CI = 1.46–2.27, P = 0.000; Arg/Gln vs. Arg/Arg, OR = 1.25, 95% CI = 1.10–1.42, P = 0.001 and for Arg194Trp polymorphism: recessive model, OR = 1.78, 95% CI = 1.44–2.19, P = 0.000), whereas the Arg280His polymorphism had no influence on the susceptibility to glioma in a Chinese population.ConclusionsThis meta-analysis suggests that there may be no association between the Arg280His polymorphism and glioma risk, whereas the Arg399Gln/Arg194Trp polymorphisms may contribute to genetic susceptibility to glioma in the Chinese population. Nevertheless, large-scale, well-designed and population-based studies are needed to further evaluate gene-gene and gene–environment interactions, as well as to measure the combined effects of these XRCC1 variants on glioma risk.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

XRCC1 Gene Polymorphisms and Glioma Risk in Chinese Population: A Meta-Analysis

Shi

Jiang

et al. 2014

PLoS ONE

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“…However, there are some reports on the correlation of the c.1196A>G variant of XRCC1 with glioblastoma [38,39]. Glioblastoma (synonym: glioma) is a cancer of the glial cells.…”

Section: Discussionmentioning

confidence: 99%

Variants of Base Excision Repair Genes MUTYH, PARP1 and XRCC1 in Alzheimer's Disease Risk

Kwiatkowski

Czarny²,

Gałecki³

et al. 2015

Neuropsychobiology

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Background: Many clinical studies have shown that oxidative stress pathways and the efficiency of the oxidative DNA damage base excision repair (BER) system are associated with the pathogenesis of Alzheimer's disease (AD). Reduced BER efficiency may result from polymorphisms of BER-related genes. In the present study, we examine whether single nucleotide polymorphisms (SNPs) of BER genes are associated with increased risk of AD. Methods: SNP genotyping was carried out on DNA isolated from peripheral blood mononuclear cells obtained from 120 patients with AD and 110 healthy volunteers. Samples were genotyped for the presence of BER-related SNPs, i.e. XRCC1-rs1799782, rs25487; MUTYH-rs3219489, and PARP1-rs1136410. Results: We found a positive association between AD risk and the presence of G/A genotype variant of the XRCC1 rs25487 polymorphism [odds ratio (OR) = 3.762, 95% CI: 1.793-7.891]. The presence of the A/A genotype of this polymorphism reduced the risk of AD (OR = 0.485, 95% CI: 0.271-0.870). In cases of the PARP1 gene rs1136410 polymorphism, we observed that the T/C variant increases (OR = 4.159, 95% CI: 1.978-8.745) while the T/T variant reduces risk (OR = 0.240, 95% CI: 0.114-0.556) of AD. Conclusions: We conclude that BER gene polymorphisms may play an important role in the etiology of AD. Diagnosing the presence or absence of particular genetic variants may be an important marker of AD. Further research on a larger population is needed. There is also a need to examine polymorphisms of other BER in the context of AD risk.

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“…Figure 1 shows the study selection process. Of these studies, five dealt with probands of Caucasian origin [24–27, 30] and eleven referred to Asian origin [28, 29, 31–39]; five studies were out of Hardy Weinberg Equilibrium (HWE) [28, 30, 31, 34, 37]. Table 1 lists the main characteristics of identified studies.…”

Section: Resultsmentioning

confidence: 99%

Reappraisal of XRCC1 Arg194Trp polymorphism and glioma risk: a cumulative meta-analysis

Deng

Song

et al. 2017

Oncotarget

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The association between XRCC1 Arg194Trp polymorphism and glioma risk were inconsistent from published meta-analyses and epidemiological studies. Hence, we performed this updated and cumulative meta-analysis to reappraisal this relationship. PubMed, Embase, CBM (Chinese Biomedical Database), and CNKI (China National Knowledge Internet) databases were comprehensively searched up to August 13, 2016 (updated on December 22, 2016). After study selection and data extraction from eligible studies, the association was evaluated by odds ratios (ORs) and its 95% confidence intervals (95%CIs) using Comprehensive Meta-Analysis software. Finally 16 case-control studies involving 7011 patients and 9519 healthy controls were yielded. The results indicated that XRCC1 Arg194Trp polymorphism was significantly correlated with the increased risk of glioma [Trp vs. Arg: OR = 1.18(1.05-1.34); TrpTrp vs. ArgArg: OR = 1.66(1.31-2.12); ArgTrp vs. ArgArg: OR = 1.34(1.02-1.77); TrpTrp vs. ArgArg+ArgTrp: OR = 1.47(1.26-1.72); TrpTrp+ArgTrp vs. ArgArg: OR = 1.17(1.01-1.35)]. Cumulative analysis showed the results changed from non-significant to significant when new studies accumulated, and sensitivity analysis indicated the results were stable. Subgroup analysis showed the significant association existed in Asians but not in Caucasians. Current evidence indicated that XRCC1 Arg194Trp polymorphism was associated with increased risk for glioma, especially in Asians; however, relevant studies involving other ethnic groups are required to validate our findings in further.

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Investigation of the effects of single-nucleotide polymorphisms in DNA repair genes on the risk of glioma

Cited by 16 publications

References 23 publications

XRCC1 Gene Polymorphisms and Glioma Risk in Chinese Population: A Meta-Analysis

XRCC1 Gene Polymorphisms and Glioma Risk in Chinese Population: A Meta-Analysis

Variants of Base Excision Repair Genes <b><i>MUTYH</i></b>, <b><i>PARP1</i></b> and <b><i>XRCC1</i></b> in Alzheimer's Disease Risk

Reappraisal of XRCC1 Arg194Trp polymorphism and glioma risk: a cumulative meta-analysis

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