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

Author(s):  
Amrita Choudhary ◽  
Upendra Yadav ◽  
Pradeep Kumar ◽  
Vandana Rai

AbstractSeveral 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.

2020 ◽  
Vol 148 ◽  
Author(s):  
Susu Ye ◽  
Xinlei Zhang ◽  
Yu bao Zhang ◽  
Xintao Tian ◽  
Ailing Liu ◽  
...  

Abstract TLR3 and IL-10 play a crucial role in antiviral defence. However, there is a controversy between TLR3 rs3775291 and IL-10 rs1800871 polymorphisms and the risk of hepatitis B virus (HBV) infection. The purpose of this study is to explore the relationship between the two single nucleotide mutations and the risk of HBV infection by meta-analysis. Medline, EMBASE, Web of Science, CNKI, China Wanfang database were searched for the case-control studies on the relationship between TLR3 rs3775291 and IL-10 rs1800871 polymorphism and susceptibility to HBV, updated to June 2020. The data were analysed by Stata 15.0 software. A total of 22 articles were included. The results showed that in the analysis of IL10 rs1800871 polymorphism and the risk of HBV infection, the pooled OR was 1.21 (95% CI 1.06–1.37), 1.28 (95% CI 1.04–1.56) and 1.20 (95% CI 1.06–1.37) and 1.40 (95% CI 1.07–1.83) in the allele model (C vs. T), dominant model (CC+CT vs. TT), recessive model (CC vs. CT+TT) and homozygous model (CC vs. TT), respectively. There was no statistical significance in the heterozygote model. A subgroup analysis of the Asian population showed similar results. The analysis of TLR3 rs3775291 polymorphism and the risk of HBV showed that in the allele model (T vs. C), the pooled OR was 1.30 (95% CI 1.05–1.61). Except for the recessive model, no significances were found in other genetic models. In conclusion, TLR3 rs3775291 and IL-10 rs1800871 polymorphisms are associated with the risk of HBV. Allele C and genotype CC at IL10 rs1800871 loci, as well as allele T and genotype TT at TLR rs3775291 loci, may increase susceptibility to Hepatitis B infection.


2020 ◽  
Vol 20 (1) ◽  
pp. 351-358
Author(s):  
Yingwei Wang ◽  
Peiyang Hu

Background: Inconsistent results have been reported from studies investigating the relationship of the interleukin-10 (IL-10) -1082 G/A polymorphism and the susceptibility of hepatocellular carcinoma (HCC). Therefore, a thorough literature review of relatedstudies was performed in this meta-analysis to examine the association of the interleukin-10(IL-10) -1082 G/A poly- morphism with HCC susceptibility. Methods: Electronic databases were searched for literature on the relationship between interleukin-10(IL-10) -1082 G/A poly- morphism and the risk of HCC in accordance with the inclusion and exclusion criteria. The selected studies were analyzed using the Stata 12.0 software. Finally, the strength of the associations was evaluated using the odds ratio (OR) and 95% confidence intervals (95% CI). Results: A total of six case-control studies were enrolled into the current meta-analysis, which included a total of 911 patients and 1889 control subjects. Our data revealed no association between the IL-10 -1082 G/A polymorphism and the risk of HCC (GG vs AA:OR=0.84, 95%CI=0.57-1.25; AG vs AA:OR=0.85, 95%CI=0.70-1.05; Dominant model: OR=0.85, 95%CI=0.70- 1.03; and Recessive model: OR=0.92, 95%CI = 0.64-1.32). Similarly, no association was found in sub-group analysis based on ethnicity. Conclusion: The results of our study suggest no association between IL-10 -1082 G/A polymorphism and the risk of HCC. Keywords: Hepatocellular carcinoma; IL-10 polymorphism; risk analysis. 


2019 ◽  
Author(s):  
Xiaodong Feng ◽  
Jingming Liu

Abstract 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.


BMC Cancer ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Shan Tang ◽  
Jing Zhang ◽  
Ting-Ting Mei ◽  
Hai-Qing Guo ◽  
Xin-Huan Wei ◽  
...  

Abstract 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.


2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Xiao Yang ◽  
Pengchao Li ◽  
Jun Tao ◽  
Chao Qin ◽  
Qiang Cao ◽  
...  

Nuclear factor-κB is associated with the pathogenesis of numerous malignancies, and the functional polymorphism −94ins/del ATTG (rs28362491) in the humanNFKB1gene is associated with cancer risk. Previous studies on the association between the −94ins/del ATTG polymorphism and cancer risk reported conflicting results. To clarify this relationship, we performed a meta-analysis of 21 case-control studies involving 6127 cases and 9238 controls. We used pooled odds ratios (ORs) with their 95% confidence intervals (95% CIs) to assess the association. We found that theNFKB1promoter −94ins/del ATTG polymorphism was significantly associated with cancer risk in four genetic models (ins/ins versus del/del, OR = 1.47, 95% CI = 1.11–1.93; dominant model, OR = 1.26, 95% CI = 1.03–1.53; recessive model, OR = 1.26, 95% CI = 1.05–1.51; ins allele versus del allele, OR = 1.19, 95% CI = 1.05–1.35). Stratified analyses revealed a significant association between the polymorphism and ovarian, oral, and prostate cancers. Similar results were determined in an Asian population and not in a Caucasian population. Thus, our results suggested that the polymorphism can contribute to cancer risk. Moreover, the polymorphism can exert race- and cancer-specific effects on cancer risk. Further large-scale and functional studies are necessary to elucidate this possible effect.


2020 ◽  
Author(s):  
Amrita Chaudhary ◽  
Pradeep Kumar ◽  
Vandana Rai

Catechol-O-methyl transferase (COMT) enzyme catalyzes the metabolism of dopamine and other catechols in the brain. Several articles investigated catechol-O-methyltransferase (COMT) Val158Met polymorphism as risk factor for alcohol dependence (AD) but the results were inconclusive. The aim of present meta-analysis was to evaluate the association of Val158Met (COMT) polymorphism with AD. Authors performed keyword search of the four electronic databases- Pubmed, Google Scholar, Springer Link and Science Direct databases up to December 31,2019 . Total eighteen studies that investigated the association of Val158Met polymorphism with AD were retrieved. The pooled results from the meta-analysis (2,278 AD cases and 3717 healthy controls) did not show association with AD using all five genetic models (allele contrast model: OR = 1.02, 95% CI= 0.90-1.14, p= 0.03; homozygote model: OR = 1.06, 95% CI= 0.81-1.38, p= 0.69; dominant model: OR = 0.99, 95% CI= 0.85-1.14, p= 0.87; co-dominant model: OR = 0.97, 95% CI= 0.86-1.11, p= 0.71; recessive model: OR = 1.05;95% CI= 0.85-1.29, p=0.61). Results of subgroup analysis showed that Val158Met is not risk for AD in Asian and Caucasian population. In conclusion, COMT Val158Met is not a risk factor for alcohol dependence.


2022 ◽  
Vol 12 ◽  
Author(s):  
Jie Chai ◽  
Xian-Ling Cao ◽  
Feng Lu

Background: Although numerous epidemiological studies have investigated the association between −174G/C(rs1800795) polymorphism in the interleukin-6 (IL-6) gene-stimulatory region and the risk of ischemic stroke (IS), they failed to reach a unified conclusion. The true relationship between −174G/C(rs1800795) polymorphism and IS remains controversial and unclear. Therefore, in this meta-analysis, we aimed to analyze more precisely the association between −174G/C(rs1800795) single-nucleotide polymorphism (SNP) of IL-6 gene and IS in a larger pooled population.Methods: A comprehensive literature search was performed in PubMed, Web of Science, and the Cochrane Central Register of Controlled Trials until June 30, 2021. A fixed or random-effects model was utilized based on heterogeneity between studies. The odds ratios (ORs) and 95% confidence intervals (Cis) were calculated in the models of allele comparison (G vs. C), homozygote comparison (GG vs. CC) and (GC vs. CC), dominant (GG vs. GC + CC), hyper dominant (GG + CC vs. GC), and recessive (GG + GC vs. CC) to determine the strength of associations.Results: This meta-analysis included 13 case-control studies in 35 articles with 5,548 individuals. Overall, no significant associations between IL-6 −174G/C(rs1800795) and IS were identified (G vs. C:OR [95% CI] = 0.99 [0.81, 1.21], P = 0.91; GG + CC vs. GC:0.97 [0.85, 1.11], P = 0.66; GG vs. GC + CC: 1.01 [0.81, 1.25], P = 0.94; GC vs. CC: OR [95% CI] = 1.01 [0.68, 1.5], P = 0.96; GG vs. CC:0.93 [0.57, 1.51], P = 0.76; GG + GC vs. CC:0.97 [0.64, 1.47], P = 0.89). In the subgroup analyses by ethnicity or HWE P-value, there was a statistically significant association between IL-6 −174G/C(rs1800795) polymorphisms and IS in the alleles model; (G vs. C: LogOR [95% CI] = 0.14 [−0.16,.45], P = 0.00), homozygote model (GG vs. CC: LogOR [95% CI] = 0.18 [−0.58,.95], P = 0.00) and (GC vs. CC: LogOR [95% CI] = 0.2 [−0.46,.85], P = 0.00), dominant model (GG vs. GC + CC: OR [95% CI] = 0.02 [−0.72, 0.77], P = 0.00), and recessive model (GG + GC vs. CC: OR [95% CI]= −0.17 [−0.86,.52], P = 0.00) of the European population and in the dominant model (GG vs. GC + CC: OR [95% CI] = −0.13 [−0.51, 0.24]) of the Asian population. No statistical significance was identified in both six models of HWE p ≥ 0.2 group (both P ≥ 0.05).Conclusion: This meta-analysis revealed no correlation between IL-6 −174G/C(rs1800795) polymorphism and IS, whereas the subgroup analysis indicated that the relationship between IL-6 −174G/C(rs1800795) polymorphism and IS susceptibility varied significantly according to ethnicity and geography.


2020 ◽  
Vol 40 (2) ◽  
Author(s):  
Sheng Zhang ◽  
Jiakai Jiang ◽  
Weifeng Tang ◽  
Longgen Liu

Abstract C677T (Ala&gt;Val, rs1801133 C&gt;T), a non-synonymous variant of methylenetetrahydrofolate reductase (MTHFR) gene, has been found to be associated with an impair enzyme activity of MTHFR. The relationship of MTHFR rs1801133 with hepatocellular carcinoma (HCC) has been extensively investigated. However, the findings were conflicting. Recently, more investigations have been conducted on the relationship of MTHFR rs1801133 with HCC. To obtain a more precise assessment on the effect of this non-synonymous variant to the development of HCC, a pooled-analysis was performed. This meta-analysis consisted of 19 independent case–control studies. By using the odds ratio (OR) combined with 95% confidence interval (CI), the relationship of MTHFR rs1801133 with HCC risk was determined. A total of 19 independent case–control studies were included. Finally, 6,102 HCC cases and 6,526 controls were recruited to examine the relationship of MTHFR rs1801133 with HCC risk. In recessive model (TT vs. CC/CT), the findings reached statistical significance (OR, 0.90; 95%CI, 0.82–0.98; P = 0.016). Subgroup analysis also found an association between MTHFR rs1801133 polymorphism and the decreased risk of HCC in hepatitis/virus related patients (recessive model: OR, 0.85; 95%CI, 0.72–0.99; P = 0.035, and allele model: OR, 0.90; 95%CI, 0.81–0.99; P = 0.028). Subgroup analyses indicated that extreme heterogeneity existed in Asian population, larger sample size investigation, hospital-based study and normal/healthy control subgroups. The shape of Begger’s seemed symmetrical. Egger’s linear regression test also confirmed these evaluations. Sensitivity analyses suggested that our findings were stable. In summary, our results highlight that MTHFR rs1801133 polymorphism decreases HCC susceptibility. The relationship warrants a further assessment.


2011 ◽  
Vol 21 (3) ◽  
pp. 445-451 ◽  
Author(s):  
Ya Li ◽  
Fei Liu ◽  
Shiqiao Tan ◽  
Shangwei Li

BackgroundStudies investigating the association between p21 genetic polymorphism Ser31Arg and cervical cancer (CC) risk report conflicting results. The aim of this study was to quantitatively summarize the evidence for p21 polymorphism and CC risk.MethodsTwo investigators independently searched the MEDLINE, Embase, CNKI, and Chinese Biomedicine databases. Summary odds ratios (ORs) and 95% confidence intervals (CIs) for p21 polymorphism and CC were calculated in a fixed effects model (the Mantel-Haenszel method) and a random effects model (the DerSimonian and Laird method) when appropriate. The pooled ORs were performed for codominant model (Arg/Arg vs Ser/Ser and Arg/Ser vs Ser/Ser), dominant model (Arg/Arg + Arg/Ser vs Ser/Ser), and recessive model (Arg/Arg vs Arg/Ser + Ser/Ser). Subgroup analyses were performed by country, matched controls, and Hardy-Weinberg equilibrium in the controls and study sample size.ResultsThis meta-analysis included 10 case-control studies from an Asian population, which included 1415 CC cases and 1947 controls. Overall, the variant genotypes (Arg/Arg and Arg/Ser) of Ser31Arg were not associated with CC risk, when compared with the wild-type homozygote Ser/Ser (Arg/Arg vs Ser/Ser: OR, 1.30; 95% CI, 0.81-2.08; Arg/Ser vs Ser/Ser: OR, 1.06; 95% CI, 0.72-1.55). Similarly, no associations were found in the dominant and recessive models (dominant model: OR, 1.05; 95% CI, 0.73-1.51; recessive model: OR, 1.28; 95% CI, 0.86-1.90). Stratified analyses also detected no significant association in any subgroup, except among those studies from "other" country and those studies with controls deviated from Hardy-Weinberg equilibrium.ConclusionNo association was found between the p21 polymorphism Arg31Ser and risk of CC among Asians. In the future, additional studies based on white and African American patients should be performed to re-evaluate the association.


2020 ◽  
Author(s):  
Yongping Liu ◽  
Xue Wu ◽  
Xi Xia ◽  
Jun Yao ◽  
Bao-jie Wang

Abstract 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.


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