Association of LIG4 and XRCC4 gene polymorphisms with the risk of human glioma in a Chinese population.
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ABSTRACT:
SUBMITTER: Su Y
PROVIDER: S-EPMC4396291 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
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Project description: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.
| S-EPMC4222958 | biostudies-literature
Project description:Vesicle-associated membrane protein 8 (VAMP8) gene plays an important role in biological functions like endosomal fusion, sequential granule-to-granule fusion and autophagy. The current research identified VAMP8 acted as a novel oncogene by promoting cell proliferation and therapeutic resistance in glioma. Nevertheless, the association between VAMP8 genes polymorphism and glioma patients has not been well studied. In our study, to explore the association between single nucleotide polymorphisms (SNPs) of VAMP8 gene with glioma risk in the Chinese Han population, we performed a hospital based case-control study (992 cases and 1008 controls). Eight common tagging SNPs of VAMP8 gene were genotyped, while no significant difference in allele or genotype frequency was found between glioma patients and healthy controls. No positive linkage disequilibrium (LD) was detected either. No haplotype distribution was positive. Accordingly, our study suggested that VAMP8 gene variants might not contribute to glioma susceptibility and associated with glioma in the Chinese Han population.
| S-EPMC4503152 | biostudies-literature
Project description:Several studies indicated that genetic polymorphisms in the epidermal growth factor receptor (EGFR) gene were associated with glioma risk. However, the relationship between EGFR genetic polymorphisms and glioma remains unclear in the Chinese population.We designed a case-control study by selecting 300 histologically confirmed adult glioma patients and 300 cancer-free controls to analyze the distribution of EGFR genotype. Two single-nucleotide polymorphisms, rs730437 and rs1468727, were genotyped by using the polymerase chain reaction-restriction fragment length polymorphism method.We found that the CC genotype of rs1468727 was more common in the glioma group than in the control group (p=0.021). We also found that the C allele frequency was higher in the glioma group than that in the control group (p=0.005; odds ratio [OR]=1.38, 95% confidence interval [CI]: 1.101-1.740). For rs730437, we found both the AA genotype (p=0.011) and A allele frequency (p=0.003; OR=0.703; 95% CI: 0.558-0.886) were significantly lower in the glioma patients than in the control subjects, respectively. Haplotype analysis showed that the A T haplotype frequency was higher in the control group than in the glioma group (p=0.005; OR=0.722; 95% CI: 0.575-0.908). However, the CC haplotype frequency was higher in the glioma group than in the control group (p=0.003; OR=1.423; 95% CI: 1.129-1.793).Our study indicates that polymorphisms in the EGFR gene are associated with glioma susceptibility in the Chinese population.
| S-EPMC4278171 | biostudies-literature
Project description:We investigated the associations between single nucleotide polymorphisms (SNPs) in the regulator of telomere elongation helicase 1 (RTEL1) gene and stroke in the Chinese population. A total of 400 stroke patients and 395 healthy participants were included in this study. Five SNPs in RTEL1 were genotyped and the association with stroke risk was analyzed. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated using unconditional logistic regression analysis. Multivariate logistic regression analysis was used to identify SNPs that correlated with stroke. Rs2297441 was associated with an increased risk of stroke in an allele model (odds ratio [OR] = 1.24, 95% confidence interval [95% CI] = 1.01-1.52, p = 0.043). Rs6089953 was associated with an increased risk of stroke under the genotype model ([OR] = 1.862, [CI] = 1.123-3.085, p = 0.016). Rs2297441 was associated with an increased risk of stroke in an additive model (OR = 1.234, 95% CI = 1.005, p = 0.045, Rs6089953, Rs6010620 and Rs6010621 were associated with an increased risk of stroke in the recessive model (Rs6089953:OR = 1.825, 95% CI = 1.121-2.969, p =0.01546; Rs6010620: OR = 1.64, 95% CI = 1.008-2.669, p =0.04656;Rs6010621:OR = 1.661, 95% CI = 1.014-2.722, p =0.04389). Our findings reveal a possible association between SNPs in the RTEL1 gene and stroke risk in Chinese population.
| S-EPMC5777748 | biostudies-literature
Project description:This study aims to investigate the possible association between Interleukin-31 (IL-31) gene polymorphisms and cryptorchidism risk.Two single nucleotide polymorphisms of IL-31, rs7977932 (C/G) and rs4758680 (C/A), were selected to be investigated in this study. Polymerase chain reaction-restriction fragment length polymorphism methods were used to discriminate the selected single nucleotide polymorphisms of IL-31 gene. A hospital-based case-control study of 112 cryptorchidism patients and 425 healthy controls was conducted.The frequencies of the C allele of rs4758680 in the patients with cryptorchidism were significantly higher compared with those in controls (89% vs 83%, P?=?.02, OR?=?0.58, 95% CI?=?0. 37-0.92). Compared with CC genotype in dominant model, notable decreased frequencies of A carriers (CA/AA genotypes) were observed in cryptorchidism patients (P?=?. 03, OR?=?0.58, 95% CI?=?0.35-0.96).Results demonstrated that IL-31 gene polymorphisms were associated with the genetic susceptibility to cryptorchidism in a Chinese population. Compared with CC genotype, the A carriers (CA/AA genotypes) of rs4758680 were protect factors in cryptorchidism susceptibility.
| S-EPMC6709342 | biostudies-literature
Project description:Multiple genetic and environmental factors together contribute to the risk of IgA nephropathy (IgAN). MPHOSPH6 play an important role in the recruitment of the exosome to the pre-rRNA. However, to date, little information is found about the association between MPHOSPH6 polymorphisms and the IgAN risk. In this case-control study, we genotyped five single nucleotide polymorphisms (SNPs) in MPHOSPH6 gene in 416 IgAN cases and 495 controls using Sequenom Mass-ARRAY technology and evaluated their association with IgAN using the ?2 and genetic model analysis. In the allelic model analysis, we determined rs1056654 was associated with a 0.774-fold decrease in the risk of IgAN (95%CI= 0.630-0.952; p = 0.015). In the genetic model analysis, we found that the "C/C" genotype of rs1056675 was associated with an increased risk of IgAN based on the codominant model (OR =1.48; 95% CI=1.03-2.13; p=0.033) and recessive model (OR =1.52; 95% CI=1.11-2.09; p=0.0095). The "G/A-A/A" genotype of rs1056654 was associated with a decreased risk of IgAN based on the dominant model (OR =0.75; 95% CI=0.58-0.98; p=0.032) and log-additvie model (OR =0.78; 95% CI=0.64-0.96; p=0.0188). Our data suggested that gene polymorphisms in the MPHOSPH6 may exert influences IgAN susceptibility in a Chinese Han population.
| S-EPMC5641137 | biostudies-literature
Project description:The base excision repair (BER) pathway, containing OGG1, MTH1 and MUTYH, is a major protector from oxidative DNA damage in humans, while 8-oxoguanine (8-OHdG), an index of DNA oxidation, is increased in maintenance hemodialysis (HD) patients. Four polymorphisms of BER genes, OGG1 c.977C?>?G (rs1052133), MTH1 c.247G?>?A (rs4866), MUTYH c.972G?>?C (rs3219489), and AluYb8MUTYH (rs10527342), were examined in 337 HD patients and 404 healthy controls. And the 8-OHdG levels in leukocyte DNA were examined in 116 HD patients. The distribution of MUTYH c.972 GG or AluYb8MUTYH differed between the two groups and was associated with a moderately increased risk for end-stage renal disease (ESRD) (P = 0.013 and 0.034, resp.). The average 8-OHdG/10(6)?dG value was significantly higher in patients with the OGG1 c.977G, MUTYH c.972G or AluYb8MUTYH alleles (P < 0.001 via ANOVA). Further analysis showed that combination of MUTYH c.972GG with OGG1 c.977GG or AluYb8MUTYH increased both the risk for ESRD and leukocyte DNA 8-OHdG levels in HD patients. Our study showed that MUTYH c.972GG, AluYb8MUTYH, and combination of OGG1 c.977GG increased the risk for ESRD development in China and suggested that DNA oxidative damage might be involved in such process.
| S-EPMC3375099 | biostudies-literature
Project description:BACKGROUND Colorectal cancer (CRC) is one of the leading causes of cancer-related deaths worldwide. More advanced work is required in the detection of biomarkers for CRC susceptibility and prognosis. High-mobility group box-1 (HMGB1) is an angiogenesis-related gene reported to be associated with the development of CRC. The direct evidence of HMGB1 gene polymorphisms as biomarkers for CRC has not been reported previously. MATERIAL AND METHODS A total of 240 CRC patients and 480 healthy controls were periodically enrolled. DNA was extracted from blood specimens. The distributions of SNPs of HMGB1 were determined by using the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay. RESULTS In this case-control study, we observed a significant association between overall CRC risk and SNP rs2249825 (CG vs. CC and GG vs. CC). Participants carrying both rs2249825 CG (OR, 2.67; 95% CI, 1.89 to 3.78) and rs2249825 GG genotypes (OR, 2.32; 95% CI, 1.13 to 4.73) had a significantly increased risk of developing CRC compared to those carrying GG genotype. rs2249825 was associated with the risk of CRC in the dominant model but not in the recessive model. However, we found no significant differences in the rs1412125 or rs1045411 polymorphisms in the HMGB1. Advanced analyses showed that the number of rs2249825 G alleles showed a significant relationship with risk of CRC. CONCLUSIONS Our results show an association between HMGB1 rs2249825 SNP and CRC incidence in the Chinese Han population. However, population-based studies with more subjects and prognostic effects are needed to verify the association of HMGB1 SNPs with CRC susceptibility, severity, and long-term prognosis.
| S-EPMC5040220 | biostudies-literature
Project description:Neuroblastoma is a common childhood malignancy. Nucleotide excision repair (NER) polymorphisms have been shown to influence cancer susceptibility by modifying DNA repair efficiency. To investigate the association of NER gene polymorphisms with neuroblastoma risk, we constructed a three-center case-control study. A total of 19 candidate single-nucleotide polymorphisms (SNPs) in NER genes were analyzed. Odds ratios (ORs) and 95% confidential intervals (CIs) were calculated to evaluate the associations. We identified five independent SNPs that were significantly associated with neuroblastoma risk, including XPA rs1800975 (dominant model: adjusted OR = 0.73, 95% CI = 0.55-0.98, p = 0.033), XPA rs3176752 (recessive model: adjusted OR = 2.78, 95% CI = 1.12-6.91, p = 0.028), XPD rs3810366 (dominant: adjusted OR = 1.44, 95% CI = 1.05-1.97, p = 0.022; recessive: adjusted OR = 1.58, 95% CI = 1.18-2.11, p = 0.002), XPD rs238406 (dominant: adjusted OR = 0.64, 95% CI = 0.48-0.84, p = 0.002; recessive: adjusted OR = 0.67, 95% CI = 0.48-0.94, p = 0.021), and XPG rs2094258 (recessive: adjusted OR = 1.44, 95% CI = 1.03-2.04, p = 0.036). Stratified analysis was carried out. Furthermore, these findings were strengthened by false-positive report probability (FPRP) analysis and expression quantitative trait loci (eQTL) analysis. In conclusion, our study indicates that five SNPs in NER genes are correlated with neuroblastoma susceptibility in the eastern Chinese population, providing novel insight into the genetic underpinnings of neuroblastoma. However, further large-scale studies are required to verify these findings.
| S-EPMC7851491 | biostudies-literature
Project description:BackgroundAlthough it has been confirmed that IL1RL1 is involved in the occurrence of allergic rhinitis (AR), the role of IL1RL1 gene single nucleotide polymorphisms (SNPs) in AR is still unclear.MethodsWe performed a case-control study including 1000 AR patients and 1000 healthy controls. The four SNPs rs72823628 G > A, rs950881 G > T, rs72823641 T > A and rs3771175 T > A in IL1RL1 were chosen and genotyped using Agena MassARRAY platform. The relationship between IL1RL1 SNPs and AR risk was analyzed by logistic regression and assessed with odds ratios (ORs) and corresponding 95% confidence intervals (95% CIs).ResultsOverall analysis revealed that IL1RL1 gene rs72823628, rs950881 and rs3771175 were associated with a reduced AR risk. Stratified analysis showed that the three SNPs (rs72823628, rs950881 and rs3771175) were obviously linked to a reduced risk of AR in males. Moreover, no correlation was observed between haplotypes and reduced AR risk after the false discovery rate (FDR) correction. The false positive report probability (FPRP) analysis was used to further validate significant findings.ConclusionOur study is the first to indicate that IL1RL1 gene polymorphisms (rs72823628, rs950881 and rs3771175) may be correlated with decreased risk of AR in the Chinese Han population.
| S-EPMC9701900 | biostudies-literature