COL3A1 rs1800255 polymorphism is associated with pelvic organ prolapse susceptibility in Caucasian individuals: Evidence from a meta-analysis

Background The collagen 3 alpha 1 (COL3A1) rs1800255 polymorphism has been reported to be associated with women pelvic organ prolapse (POP) susceptibility, but the results of these previous studies have been contradictory. The objective of current study is to explore whether COL3A1 rs1800255 polymorphism confers risk to POP. Methods Relevant literatures were searched by searching databases including Pubmed, Embase, Google academic, the Cochrane library, China National Knowledge Infrastructure (CNKI). Search time is from database foundation to March 2021. Results A total of seven literatures were enrolled in the present meta-analysis, including 1642 participants. Overall, no significant association was found by any genetic models. In subgroup analysis based on ethnicity, significant associations were demonstrated in Caucasians by allele contrast (A vs. G: OR = 1.34, 95%CI = 1.03–1.74,), homozygote comparison (AA vs. GG: OR = 3.25, 95%CI = 1.39–7.59), and recessive genetic model (AA vs. GG/GA: OR = 3.22, 95%CI = 1.40–7.42). Conclusions The present meta-analysis suggests that the COL3A1 is a candidate gene for POP susceptibility. Caucasian individuals with A allele and AA genotype have a higher risk of POP. The COL3A1 rs1800255 polymorphism may be risk factor for POP in Caucasian population.

New insights of the correlation between AXIN2 polymorphism and cancer risk and susceptibility: evidence from 72 studies

Background Numerous studies have reported the correlation between AXIN2 polymorphism and cancer risk, but the results seem not consistent. In order to get an overall, accurate and updated results about AXIN2 polymorphism and cancer risk, we conducted this study. Methods An updated analysis was performed to analyze the correlation between AXIN2 polymorphisms and cancer risk. Linkage disequilibrium (LD) analysis was also used to show the associations. Results Seventy-two case-control studies were involved in the study, including 22,087 cases and 18,846 controls. The overall results showed rs11079571 had significant association with cancer risk (allele contrast model: OR = 0.539, 95%CI = 0.478–0.609, PAdjust = 0.025; homozygote model: OR = 0.22, 95% CI = 0.164–0.295, PAdjust< 0.001; heterozygote model: OR = 0.292, 95% CI = 0.216–0.394, PAdjust< 0.001; dominant model: OR = 0.249, 95% CI = 0.189–0.33, PAdjust< 0.001). The same results were obtained with rs1133683 in homozygote and recessive models (PAdjust< 0.05), and in rs35285779 in heterozygote and dominant models (PAdjust< 0.05). LD analysis revealed significant correlation between rs7210356 and rs9915936 in the populations of CEU, CHB&CHS, ESN and JPT (CEU: r2 = 0.91; CHB&CHS: r2 = 0.74; ESN: r2 = 0.62, JPT: r2 = 0.57), and a significant correlation between rs9915936 and rs7224837 in the populations of CHB&CHS, ESN and JPT (r2>0.5), between rs7224837 and rs7210356 in the populations of CEU, CHB&CHS, JPT (r2>0.5), between rs35435678 and rs35285779 in the populations of CEU, CHB&CHS and JPT (r2>0.5). Conclusions AXIN2 rs11079571, rs1133683 and rs35285779 polymorphisms have significant correlations with overall cancer risk. What’s more, two or more polymorphisms such as rs7210356 and rs9915936, rs9915936 and rs7224837, rs7224837 and rs7210356, rs35435678 and rs35285779 have significant correlation with cancer susceptibility in different populations.

Association between TM6SF2 rs58542926 T/C gene polymorphism and significant liver fibrosis: A meta-analysis

AimTo further explore the association between Transmembrane 6 superfamily member 2 (TM6SF2) rs58542926 T/C gene polymorphism and hepatic fibrosis.Materials and MethodsIn this study the MEDLINE, PubMed, EMBASE, and CENTRAL databases were queried from inception to March 21, 2020. According to inclusion and exclusion criteria, case-control studies assessing the relationship between TM6SF2 rs58542926 T/C gene polymorphism and significant liver fibrosis were selected. NOS scale was used to evaluate the included literature. Stata 12.0 software was used for data analysis.ResultsIn this meta-analysis,a total of 7 articles, including 2286 patients were included. Statistical analysis showed that the TM6SF2 gene polymorphism was associated with significant liver fibrosis in the allele contrast, recessive dominant models (T vs. C, OR=1.292, 95%CI 1.035-1.611, P=0.023; TT vs. CT+CC, OR=2.829, 95%CI 1.101-7.267, P=0.031). No significant publication bias was found after Egger’s test.ConclusionThe present findings suggest that the TT genotype and T gene of TM6SF2 rs58542926 T/C gene polymorphism are associated with susceptibility to significant hepatic fibrosis.

The genome-wide supported CACNA1C gene polymorphisms and the risk of schizophrenia: an updated meta-analysis

Background: The CACNA1C gene was defined as a risk gene for schizophrenia in a large genome-wide association study of European ancestry performed by the Psychiatric Genomics Consortium. Previous meta-analyses focused on the association between the CACNA1C gene rs1006737 and schizophrenia. The present study focused on whether there was an ancestral difference in the effect of the CACNA1C gene rs1006737 on schizophrenia. rs2007044 and rs4765905 were analyzed for their effect on the risk of schizophrenia. Methods: Pooled, subgroup, sensitivity, and publication bias analysis were conducted.Results: A total of 18 studies met the inclusion criteria, including fourteen rs1006737 studies (15,213 cases, 19,412 controls), three rs2007044 studies (6,007 cases, 6,518 controls), and two rs4765905 studies (2,435 cases, 2,639 controls). An allele model study also related rs2007044 and rs4765905 to schizophrenia. The overall meta-analysis for rs1006737, which included the allele contrast, dominant, recessive, codominance, and complete overdominance models, showed significant differences between rs1006737 and schizophrenia. However, the ancestral-based subgroup analysis for rs1006737 found that the genotypes GG and GG + GA were only protective factors for schizophrenia in Europeans. In contrast, the rs1006737 GA genotype only reduced the risk of schizophrenia in Asians. Conclusions: Rs1006737, rs2007044, and rs4765905 of the CACNA1C gene were associated with susceptibility to schizophrenia. However, the influence model for rs1006737 on schizophrenia in Asians and Europeans demonstrated both similarities and differences between the two ancestors.

“Catechol-O-methyltransferase gene Val158Met polymorphism and prostate cancersusceptibility”

Prostate cancer is one of the most common and a serious malignancy of males and it is well reported that estrogen plays a pivotal role in prostate carcinogenesis. Catechol-O - methyltransferase (COMT) catalyzes the inactivation of estrogens. Several studies have investigated the association of COMT gene Val158Metpolymorphism with prostate cancer, but results were inconsistent and inconclusive. Hence, to assess this association, we performed a meta-analysis of all published case-control studies. Pubmed, Springer link, Google Scholar, Elsevier and Springer link databases were searched for case-control studies. Odds ratios (ORs) with 95% confidence intervals (CIs) was used as association measure. Statistical analysis was performed with the software program MIX and MetaAnalyst. In the current meta-analysis, 11 case control studies with 3381 prostate cancer cases and 3,276 healthy controls were considered. The results indicated no significant association between COMT Val158Met polymorphism and prostate cancer risk using allele contrast, co-dominant and homozygote models (allele contrast: OR= 0.92; 95% CI 0.85 to 0.98=; p= 0.02; co-dominant: OR=0.81; 95% CI= 0.85 to1.07; p= 0.46; homozygote: OR= 0.81; 95% CI= 0.70 to 0.95, p= 0.008), but showed significant association with dominant and recessive models (dominant: OR 1.18=; 95% CI= 1.03 to1.34; p= 0.01; recessive: OR= 1.54; 95% CI= 1.1 to 2.07; p = 0.003). In subgroup analysis meta-analysis using recessive genetic model showed significant association between COMT Val 158Met polymorphism and prostate cancer risk in both Asian and Caucasian populations. In conclusion, results of present meta-analysis supports that the COMT Val158Met polymorphism is risk factor for prostate cancer.

Association between dopamine receptor D2 genetic polymorphism TaqIA1 (C t) and susceptibility to alcohol dependence

Several studies are published, which investigated dopamine receptor 2 (DRD2) gene TaqIA polymorphism as ris factor for alcohol dependence (AD) with positive and negative association. To derive a more precise estimation of the relationship, a meta-analysis of case-control studies that examined the association between DRD2 gene Taq1A polymorphism and alcohol dependence were performed. Eligible articles were identified through search of databases including PubMed, Science Direct, Springer link and Google Scholar. The association between the DRD2 TaqIA polymorphism and AD susceptibility was conducted using odds ratios (ORs) and 95 % confidence intervals (95 % CIs) as association measure.A total of 69 studies with 9,125 cases and 9,123 healthy controls were included in current meta-analysis. Results of present analysis showed significant association between DRD2 TaqIA polymorphism and AD risk using a five genetic modes (allele contrast model -OR=1.22, 95% CI=1.13-1.32, p<0.0001; homozygote model -OR= 1.35, 95%CI= 1.18-1.55; p= <0.0001; dominant model -OR= 1.29; 95%CI= 1.20-1.39; p<0.0001; recessive model-OR= 1.21; 95%CI= 1.08-1.36; p= 0.0006). There was no significant association found between In subgroup analysis, TaqIA polymorphism was not significantly associated with AD risk in Asian population under all genetic models, but in Caucasian population TaqIA polymorphism was significantly associated with AD risk.Overall, results support the hypothesis that DRD2 Taq1A polymorphism plays a role in alcohol dependence.

The genome-wide supported CACNA1C gene polymorphisms and the risk of schizophrenia: an update meta-analysis

Background: The CACNA1C gene was defined as the risk gene for schizophrenia in a large GWAS of European ancestory by Psychiatric Genomics Consortium. Previous meta-analyses have focused on the association between CACNA1C gene rs1006737 and schizophrenia. However, the present study focused on whether there was a racial difference in the effect of CACNA1C gene rs1006737 on schizophrenia. In addition, rs2007044 and rs4765905 were used to analyzed the risk of schizophrenia.Methods: The pooled analysis, subgroup analysis, sensitivity analysis and publication bias were conducted.Results: A total of 18 studies met the inclusion criteria, 14 for rs1006737 (15,213 cases and 19,412 controls), 3 for rs2007044 (6007 cases and 6,518 controls), and 2 for rs4765905 (2,435 cases and 2,639 controls). Rs2007044 and rs4765905 were also related to schizophrenia in the only conducted allele model. For rs1006737, the allele contrast model, dominant model, recessive model, codominance models, and complete overdominance model were performed, and the overall meta-analysis showed significant differences between rs1006737 and schizophrenia. However, race-based subgroup analysis of rs1006737 and found that the genotypes GG and GG+GA were only protective factors for schizophrenia in European populations, while the GA genotype of rs1006737 only reduced the risk of schizophrenia in Asian populations.Conclusions: Rs1006737, rs2007044 and rs4765905 of CACNA1C gene were associated with susceptibility to schizophrenia. However, the influence model of rs1006737 on schizophrenia in Asian and European populations have both similarities and differences.

Association of TM6SF2 rs58542926 T/C gene polymorphism with hepatocellular carcinoma: a meta-analysis

Background Hepatocellular carcinoma (HCC) is the sixth-most common malignancy worldwide. Multiple previous studies have assessed the relationship between TM6SF2 gene polymorphism and the risk of developing HCC, with discrepant conclusions reached. To assess the association of TM6SF2 rs58542926 T/C gene polymorphism with liver cancer, we performed the current meta-analysis. Methods This study queried the MEDLINE, PubMed, EMBASE, and CENTRAL databases from inception to April 2019. Case-control studies assessing the relationship between TM6SF2 rs5854292 locus polymorphism and liver cancer were selected according to inclusion and exclusion criteria. The Stata 12.0 software was employed for data analysis. Results A total of 5 articles, encompassing 6873 patients, met inclusion criteria and were included in the meta-analysis. Statistical analysis showed that the TM6SF2 gene polymorphism was significantly associated with liver cancer in the allele contrast, dominant, recessive and over dominant models (T vs C, OR = 1.621, 95%CI 1.379–1.905; CT + TT vs CC. OR = 1.541, 95%CI 1.351–1.758; TT vs CT + CC, OR = 2.897, 95%CI 1.690–4.966; CC + TT vs TC, OR = 0.693, 95%CI 0.576–0.834). The Egger’s test revealed no significant publication bias. Conclusion The present findings suggest a significant association of TM6SF2 gene polymorphism with HCC risk in the entire population studied.

Methylenetetrahydrofolate reductase (MTHFR) A1298C polymorphism and risk of lung cancer

Recent epidemiological studies have reported association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and lung cancer. The aim of the present study to perform a meta-analysis of published studies to validate the association between MTHFR A1298C polymorphism and risk of lung cancer.PubMed, Springer Link, Science Direct and Google Scholar databases were searched for eligible studies. Of the 78 initially identified studies, 11 case–control studies with 5,996 patients and 7,404 healthy controls were finally included in the present meta-analysis. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to assess the association, and all statistical analyses were performed using MIX software (version 1.7).No statistically significant associations were found between the MTHFR A1298C polymorphism and lung cancer risk in the additive/ allele contrast, co-dominant/heterozygote, homozygote, dominant and recessive genetic models (C vs. A: OR= 0.95, 95% CI= 0.83-1.08; CC vs. AA: OR= 1.13, 95% CI= 0.83-1.5; AC vs. AA: OR= 0.86, 95% CI= 0.70-1.02; AC+CC vs. AA: OR= 0.89, 95% CI= 0.75-1.05; CC vs. AA+AC: OR= 1.20, 95% CI= 0.89-1.40). Significant heterogeneity between individual studies was evident in all five models. In conclusion, present meta-analysis results indicated that there is no significant association between MTHFR A1298C polymorphism and risk of lung cancer.

Association between IL-1A (-889C/T) polymorphism and susceptibility of chronic periodontitis: a meta-analysis

Background The purpose of this study was to investigate the association between IL-1A (-889C/T, rs1800587) polymorphism and susceptibility of chronic periodontitis. Methods A systematic literature search was carried out in the databases updated on July 1, 2019, including PubMed, Embase, Cochrane Library and Web of Science. Through STATA 14.0 software, the association between IL-1A (-889C/T) polymorphism and susceptibility of chronic periodontitis was calculated by pooled odds rations (ORs) and 95% confidence intervals (CIs). Harbord test was used for the publication bias. Results The results of overall meta-analysis revealed that IL-1A (-889C/T) polymorphism was associated with the susceptibility of chronic periodontitis among all the genetic models, including allele contrast (T vs. C, OR (95% CI): 1.297 (1.038-1.622), P=0.022), dominant model (TT+CT vs. CC, OR (95% CI): 1.337 (1.015-1.761), P=0.039), recessive model (TT vs. CC+CT, OR (95% CI): 1.453 (1.138-1.856), P=0.003), and codominant model (TT vs. CC, OR (95% CI): 1.555 (1.187-2.038), P=0.001; CT vs. CC, OR (95% CI): 2.559 (1.245-5.260), P=0.011). The results of subgroup analyses indicated that IL-1A (-889C/T) polymorphism was closely related to the susceptibility of chronic periodontitis in African population (T vs. C, OR (95% CI): 1.277 (1.039-1.571), P=0.020; TT+CT vs. CC, OR (95% CI): 1.357 (1.061-1.735), P=0.015; TT vs. CC, OR (95% CI): 1.599 (1.115-2.292), P=0.011), in European population (TT vs. CC+CT, OR (95% CI): 1.645 (1.112-2.435), P=0.013; TT vs. CC, OR (95% CI): 1.639 (1.044-2.574), P=0.032) and in American population (CT vs. CC, OR (95% CI): 6.404 (3.000-13.669), P<0.001). Conclusions IL-1A (-889C/T) polymorphism is associated with the susceptibility of chronic periodontitis in African, European and American populations according to the currently available evidence. However, more large-scale, multi-ethnic case-control studies are required to be conducted in future to confirm the role of IL-1A (-889C/T) gene in the occurrence and development of chronic periodontitis.