scholarly journals Association of the MTHFR 677C>T and 1298A>C polymorphisms and male infertility risk: a meta-analysis

2020 ◽  
Vol 18 (1) ◽  
Author(s):  
Fereshteh Aliakbari ◽  
Farkhondeh Pouresmaeili ◽  
Nahal Eshghifar ◽  
Zahra Zolghadr ◽  
Faezeh Azizi

Abstract Background and objectives One of the possible male sterility risk factors are polymorphisms of Methylenetetrahydrofolate reductase (MTHFR). However, the epidemiologic investigations described inconsistent results regarding MTHFR polymorphism and the risk of male infertility. For that reason, we carried out a meta-analysis of published case-control studies to re-examine the controversy. Methods Electronic searches of Cochrane, EMBASE, Google Scholar, and PubMed were conducted to select eligible studies for this meta-analysis (updated to May 2019). According to our exclusion and inclusion criteria, only high-quality studies that remarked the association between MTHFR polymorphisms and male infertility risk were included. The Crude odds ratio (OR) with a confidence interval of 95% (CI) was used to assess the relationship between MTHFR polymorphism and male infertility risk. Results Thirty-four case-control studies with 9662 cases and 9154 controls concerning 677C/T polymorphism and 22 case-control studies with 5893 cases and 6303 controls concerning 1298A/C polymorphism were recruited. Both MTHFR polymorphisms had significant associations with male infertility risk (CT + TT vs. CC: OR = 1.37, 95% CI: 1.21–1.55, P = 0.00, I2 = 41.9%); (CC vs. CA + AA: OR = 0.82, 95% CI: 0.52–1.30, P = 0.04, I2 = 50.1%). Further, when stratified by ethnicity, the significant association results were observed in Asians and Caucasians for 677C/T and just Asians for 1298A/C. Conclusions Some of MTHFR polymorphisms like MTHFR 677C > T are associated with an elevated male infertility risk. To confirm our conclusion and to provide more accurate and complete gene-environment communication with male infertility risk, more analytical studies are needed.

2020 ◽  
Vol 26 (7) ◽  
pp. 1598-1610
Author(s):  
Rim Frikha

Objective The methylenetetrahydrofolate reductase gene C677T polymorphism is closely related to the acute lymphoblastic leukemia. Several case–control studies have investigated this association; however, no conclusions could be drawn. A comprehensive updated meta-analysis is established to explain these contradictions and clarify the overall impact of this variant on the susceptibility to acute lymphoblastic leukemia. Methods Electronic searches were conducted to select published studies prior to June 2018. Pooled odds ratios and stratification analysis were performed under different genetic comparison models, age, and ethnicity. Results Totally, 66 case–control studies including 9619 acute lymphoblastic leukemia cases and 17,396 controls were selected. Our analyses showed that methylenetetrahydrofolate reductase C677T polymorphism was protective mainly in Asian and European countries, under all genetic models and regardless of age, but leukemogenic in mixed population. Conclusion Thus, C677T polymorphism may be a promising acute lymphoblastic leukemia biomarker, but they should be interpreted with caution considering other factors such as folic acid intake, gene–gene and gene–environment interactions.


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

Abstract C677T (Ala>Val, rs1801133 C>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.


Author(s):  
Mengyuan Liu ◽  
Fangfang Fan ◽  
Yan Zhang ◽  
Jianping Li

Abstract Purpose Statin-induced myopathy (SIM) is the commonest reason for discontinuation of statin therapy. The aim of this present meta-analysis is to assess the relationship between glycine amidinotransferase gene (GATM) polymorphism and risk of SIM. Methods MEDLINE, EMBASE, Web of Science, and Cochrane Library databases were searched systematically for case-control studies investigating the relationship between GATM polymorphism and SIM. Retrieved articles were carefully reviewed and assessed according to the inclusion criteria. Associations were assessed in pooled data by calculating odds ratio with 95% confidence intervals. Subgroup analysis was performed according to comedications and severity of SIM. Results Six studies with 707 cases and 2321 controls were included in this meta-analysis. GATM rs9806699 G>A was associated with decreased risk of SIM (OR = 0.80, 95% CI 0.68–0.94, P = 0.006). This association remained significant in the subgroup with fibrates or niacin excluded. However, the association of rs9806699 G>A with severe SIM was not significant. In addition, another two variations at GATM, rs1719247 C>T, and rs1346268 T>C were also associated with declined risk of SIM. Conclusions GATM polymorphism including rs9806699 G>A, rs1719247 C>T, and rs1346268 T>C may be protective factors of SIM. GATM rs9806699 G>A may only exert protective effect on mild SIM cases. Our meta-analysis indicates that GATM polymorphism may represent a pharmacogenomics biomarker for predicting incidence of SIM, which contributes to risk stratification and optimizing statin adherence.


2019 ◽  
Vol 39 (7) ◽  
Author(s):  
Yingqi Xiao ◽  
Hui Liu ◽  
Li Chen ◽  
Yang Wang ◽  
Xiang Yao ◽  
...  

Abstract Objective: To investigate whether microRNAs genes’ polymorphisms are associated with arthritis. Methods: The PubMed, Cochrane Library et al. were systematically searched to identify case–control studies, systematic reviews and meta-analyses. A meta-analysis was performed to calculate odds ratios (ORs), and confidence intervals (CIs) at 95% using fixed-effect model or random-effects model. Results: Twenty-two case–control studies involving 10489 participants fulfilled the inclusion criteria. MiR-146a rs2910164 (G/C) was not significantly associated with the risk of rheumatoid arthritis (RA) in any model. Significant associations were found between miR-146a rs2910164 (G/C) and the risk of psoriatic arthritis (PsA) in the heterozygous model and the dominant model. The heterozygous model showed a significant association between the miR-146a rs2910164 (G/C) polymorphism and ankylosing spondylitis (AS). And there was no significant association of miR-146a rs2910164 (G/C) with risk of juvenile rheumatoid arthritis (JRA) at any model. Additionally, there was a significant association of miR-499 rs3746444 (T/C) with risk of RA at two genetic models, and with a moderate heterogeneity. When subgroup analysis by ethnicity, significant associations were almost found between miR-499 rs3746444 (T/C) and the risk of RA in any model in Caucasian populations, and there is no heterogeneity. Conclusions: The association of miR-146a rs2910164 (G/C) with RA was not found. And there was a significant association between miR-146a rs2910164(G/C) and PsA or AS. MiR-499 rs3746444 (T/C) was associated with RA in Caucasian populations. These findings did not support the genetic association between miR-146a rs2910164 (G/C) and JRA susceptibility, as well as the association of miR-196a-2 rs11614913 (C/T), miR-146a rs2431697, miR-146a rs57095329, miR-149 rs22928323 with arthritis.


2018 ◽  
Vol 38 (5) ◽  
Author(s):  
Hai-Xia Duan ◽  
You-Yi Chen ◽  
Juan-Zi Shi ◽  
Nan-Nan Ren ◽  
Xiao-Juan Li

Interleukin-6 (IL-6) is a multifunctional cytokine that has been implicated in the etiology of cancer. Several case–control studies have been conducted to assess the association of IL-6 -174G>C (rs1800795) polymorphism with the risk of cervical cancer, yet with conflicting conclusions. To derive a more precise estimation of the relationship, we performed this meta-analysis updated to June 2018. A total of seven original publications were identified covering IL-6 -174G>C (rs1800795) polymorphism. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the relationship strengths. Statistically significant relationship was observed between IL-6 -174G>C polymorphism and cervical cancer risk (OR = 0.61, 95% CI: 0.40–0.94 for GG vs. CC, and OR = 0.77, 95% CI: 0.64–0.93 for G vs. C). Moreover, the significant association was found among Asians (OR = 0.46, 95% CI: 0.29–0.75 for GG vs. CC, and OR = 0.70, 95% CI: 0.57–0.89 for G vs. C); hospital-based subgroup (OR = 0.53, 95% CI: 0.38–0.72 for GG vs. CC, and OR = 0.73, 95% CI: 0.61–0.87 for G vs. C); and Hardy–Weinberg equilibrium ≤0.05 (OR = 0.56, 95% CI: 0.37–0.86 for GG vs. GC, and OR = 0.66, 95% CI: 0.47–0.93 for G vs. C). This meta-analysis showed the evidence that the IL-6 -174G>C polymorphism was a low-penetrance susceptibility variant for cervical cancer. Further large-scale case–control studies are needed to confirm these results.


BMJ Open ◽  
2021 ◽  
Vol 11 (10) ◽  
pp. e052274
Author(s):  
Xue Xue ◽  
Chun-Li Lu ◽  
Xin-Yan Jin ◽  
Xue-Han Liu ◽  
Min Yang ◽  
...  

ObjectivesTo analyse the relationship between serum uric acid (SUA), all-cause and cardiovascular (CV) mortality in peritoneal dialysis (PD) patients to inform clinical practice and future research.DesignA systematic review of observational studies.Data sourcesPubMed, Embase, Web of Science, the Cochrane Library, China National Knowledge Infrastructure (CNKI), SinoMed, Chinese Science and Technology Journal Database (VIP) and Wan Fang databases were searched from their inception to January 2021 for cohort and case–control studies reporting SUA and mortality in patients with PD.MethodsThe Newcastle-Ottawa Quality Assessment Scale was used to appraise quality of cohort and case–control studies. Effect estimates were presented as HRs with 95% CIs in a meta-analysis using STATA V.16.0. Data not suitable for pooling were synthesised qualitatively.ResultsFourteen cohort studies with 24 022 patients were included. No case–control studies were identified. For prospective cohort studies, pooled results for the highest SUA category were significantly greater than the lowest for all-cause (one study; 1278participants; HR 1.79; 95% CI 1.17 to 2.75) and CV mortality (one study; 1278 participants; HR 2.63; 1.62–4.27). An increase of 1 mg/dL in SUA level was associated with a 16% increased risk of all-cause mortality (one study; 1278 participants; HR 1.16; 1.03–1.32) and 34% increased CV mortality risk (one study; 1278 participants; HR 1.34; 1.16–1.55). For retrospective cohort studies, the highest SUA category did not demonstrate an elevated all-cause (five studies; 4570 participants; HR 1.09; 0.70–1.70) or CV mortality (three studies; 3748 participants; HR 1.00; 0.44–2.31) compared with the lowest SUA category. Additionally, there was no increase in all-cause (eight studies; 11 541 participants; HR 0.94; 0.88–1.02) or CV mortality (three studies; 7427 participants; HR 0.90; 0.76–1.06) for every 1 mg/dL increase in SUA level.ConclusionsResults of prospective and retrospective cohort studies were inconsistent. Consequently, prospective, multicentre, long-term follow-up studies are required to confirm the relationship between SUA and mortality in patients with PD.


2020 ◽  
Author(s):  
Yanxia Li ◽  
Luyang Liu ◽  
Yubei Huang ◽  
Hong Zheng ◽  
Lian Li

Abstract Background: ABO gene polymorphisms have been reported to be associated with the risk of multiple cancers and cardiocerebrovascular disease s. However, the results remained controversial. In this study, we conducted a systematic review and meta-analysis to clarify the association between two SNPs (rs505922 and rs657152) in ABO gene and cancers/ cardiocerebrovascular disease s. Method: All eligible case-control studies come from PubMed, Embase and Web of Science up to Jan. 1, 2019. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the corresponding associations. Sensitivity analysis, publication bias assessment, and heterogeneity test were performed using STATA 12.0. Results : A total of nineteen articles involving twenty-two case-control populations were included according to inclusion and exclusion criteria. Twelve populations (20,820 cases and 27,837 controls) were used to evaluate the relationship between rs505922 and overall cancers and nine populations (22,275 cases and 71,549 controls) were included to assess the association between rs505922 and cardiocerebrovascular diseases. The results showed a significant association between the rs505922 polymorphism and cancers (CvsT: OR=1.13, 95%CI=1.05-1.22, P =0.001), and cardiocerebrovascular diseases (OR=1.36, 95%CI=1.19-1.57, P <0.001). Five populations (8,660 cases and 10,618 controls) were included to evaluate association between rs657152 and cancers and five populations (8,105 cases and 6,712 controls) were included to estimate the relationship between rs657152 and cardiocerebrovascular diseases. The result of meta-analysis reveals that rs657152 was significantly associated with cancers (OR=1.18, 95%CI=1.13-1.23, P <0.001) and cardiocerebrovascular diseases (OR=1.54, 95%CI=1.24-1.92, P <0.001). Conclusion: Our study suggested that ABO polymorphisms might serve as a risk factor of pancreatic cancers and cardiocerebrovascular diseases.


Sign in / Sign up

Export Citation Format

Share Document