Is methylenetetrahydrofolate reductase (MTHFR) gene A1298C polymorphism related with varicocele risk?

Abstract Aim: To assess the risk for trisomy 21 in children, depending on the polymorphisms C677T and A1298C of the methylenetetrahydrofolate reductase (MTHFR) gene in mothers. Methods: For 93 mothers who have children with trisomy 21 and 202 mothers of healthy children (control group), genotyping of MTHFR polymorphisms C677T and A1298C was performed. Results: For each polymorphism, three genotypes were identified (normal homozygous, heterozygous and mutant homozygous). For the polymorphism C677T, the frequencies of the three genotypes (CC, CT and TT) were 50.5%, 40.8% and 8.6% in mothers of children with trisomy 21, versus 42.6%, 46% and 11.4% in mothers of healthy children, with no statistically significant differences. The frequency of the polymorphism A1298C was not statistically significant between the two groups for the genotype (AA) (48.4% vs 56.4%) or the genotype (AC) (39.8% vs 38.6%), but the genotype TT was more frequent in mothers of children with trisomy 21 (11.8% vs 4.9%; p = 0.033; OR = 2.57). Conclusion: Women with genotype CC for the polymorphism A1298C of the MTHFR gene have a 2.57 times higher risk of offspring with trisomy 21.

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MTHFR gene A1298C polymorphism and Alzheimer’s disease susceptibility

10.1101/785063 ◽

2019 ◽

Author(s):

Vandana Rai

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Methylenetetrahydrofolate Reductase ◽

Meta Analysis ◽

Mthfr Gene ◽

Genetic Models ◽

Case Control Studies ◽

Contrast Model ◽

Mthfr A1298c ◽

A1298c Polymorphism

AbstractMethylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme involved in homocysteine/methionone metabolism. It catalyzes the conversion of 5,10methlenetetrahydrofolate in to 5methyltetrahydrofolate. A number of studies have examined the association of MTHFR A1298C polymorphism as risk factor for Alzheimer’s disease (AD), but the results were contradictory. To clarify the influence of MTHFR A1298C polymorphism on Alzheimer’s disease (AD), a meta-analysis of ten case-control studies was carried out. Four electronic databases were searched up to August, 2019 for suitable articles. The pooled odds ratios (ORs) with 95% confidence intervals (95% CIs) were used to evaluate the association. All statistical analyses were performed by MetaAnalyst program.The results of meta-analysis suggested that except allele contrast model, A1298C polymorphism is not risk for Alzheimer’s disease using overall comparisons in three genetic models (C vs. A: OR= 1.26, 95%CI= 0.912-1.76, p= 0.04; CC+AC vs. AA: OR= 1.43; 95%CI= 0.85-2.44; p=0.05; CC vs. AA: OR= 1.16, 95%CI= .88-1.55, p= 0.51; AC vs. AA: 1.55; 95%CI= 0.81-2.93,p=0.07). Publication bias was absent in all five genetic models. In conclusion, results of present meta-analysis showed no significant association between MTHFR A1298C polymorphism and AD risk.

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

10.1101/19011593 ◽

2019 ◽

Author(s):

Vandana Rai

Keyword(s):

Lung Cancer ◽

Methylenetetrahydrofolate Reductase ◽

Meta Analysis ◽

Epidemiological Studies ◽

Mthfr Gene ◽

Significant Heterogeneity ◽

Case Control Studies ◽

Mthfr A1298c ◽

A1298c Polymorphism ◽

Allele Contrast

AbstractRecent 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.

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A1298C Polymorphism of Fetal Methylenetetrahydrofolate Reductase (MTHFR) Gene as a Risk Factor for Spontaneous Abortion

Indonesian Journal of Obstetrics and Gynecology ◽

10.32771/inajog.v4i2.77 ◽

2016 ◽

pp. 67

Author(s):

Isah Sulfiana ◽

St Maisuri T Chalid ◽

Retno B Farid ◽

Syahrul Rauf ◽

Eddy Hartono

Keyword(s):

Spontaneous Abortion ◽

Methylenetetrahydrofolate Reductase ◽

Mthfr Gene ◽

Chi Square ◽

Tissue Samples ◽

Mother And Child ◽

A1298c Polymorphism ◽

Child Hospital ◽

Control Study

Objective: To investigate the role of A1298C polymorphism of fetal methylenetetrahydrofolate reductase (MTHFR) gene in spontaneous abortion. Method: The case control study design recruited 96 subjects in Siti Fatimah and Pertiwi mother and child hospital, Dr. Wahidin Sudirohusodo, Pelamonia, Bhayangkara, Syekh Yusuf, Haji and Labuang Baji hospital from March to September 2014. All subjects fulfilling the inclusion criteria were taken tissue samples from mothers experiencing spontaneous abortion and blood samples from normally born baby. The data were analyzed using Pearson chi-square with significant rate of 5% (p

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Association of Methylenetetrahydrofolate Reductase Gene Polymorphisms and Sex-Specific Survival in Patients With Metastatic Colon Cancer

Journal of Clinical Oncology ◽

10.1200/jco.2007.11.4710 ◽

2007 ◽

Vol 25 (24) ◽

pp. 3726-3731 ◽

Cited By ~ 49

Author(s):

Wu Zhang ◽

Oliver A. Press ◽

Christopher A. Haiman ◽

Dong Yun Yang ◽

Michael A. Gordon ◽

...

Keyword(s):

Colon Cancer ◽

Cancer Patients ◽

Gene Polymorphisms ◽

Southern California ◽

Methylenetetrahydrofolate Reductase ◽

Mthfr Gene ◽

Comprehensive Cancer Center ◽

Metastatic Colon Cancer ◽

University Of Southern California ◽

A1298c Polymorphism

Purpose Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme regulating intracellular folate levels, which affects DNA synthesis and methylation. Two MTHFR gene polymorphisms, C677T and A1298C, are linked to altered enzyme activity. Several studies have shown these two polymorphisms to be associated with response to fluorouracil (FU) -based treatment in advanced colon cancer patients, but data are inconsistent and contradictory. Meanwhile, epidemiologic studies demonstrated that these MTHFR polymorphisms were associated with cancer risk in a sex-specific manner. We tested the hypothesis of whether these two polymorphisms are associated with sex-specific clinical outcome in metastatic colon cancer patients treated with FU-based chemotherapy. Patients and Methods This study included 318 patients (177 men and 141 women) with metastatic colon cancer treated between 1992 and 2003 at the University of Southern California/Norris Comprehensive Cancer Center or Los Angeles County/University of Southern California Medical Center. Peripheral blood samples were collected from each patient, and genomic DNA was extracted from WBCs. Two MTHFR gene polymorphisms (C677T and A1298C) were tested by fluorogenic 5′-nuclease assay. Results The A1298C polymorphism showed statistically significant differences in overall survival (OS) in female, but not male, patients with metastatic colon cancer (log-rank test, P = .038). Among females, OS was greater for patients with the A/A genotype (n = 67; median OS, 18.4 months) compared with patients with the A/C genotype (n = 50; median OS, 13.9 months) or C/C genotype (n = 10; median OS, 15.6 months). Conclusion Although preliminary, these data support the role of the A1298C polymorphism in MTHFR as prognostic marker in female patients with metastatic colon cancer. Further studies are needed to confirm these findings.

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Maternal methylenetetrahydrofolate reductase (MTHFR) gene A1298C polymorphism and risk of nonsyndromic Cleft lip and/or Palate (NSCL/P) in offspring: A meta-analysis

Asian Journal of Medical Sciences ◽

10.3126/ajms.v6i1.10281 ◽

2014 ◽

Vol 6 (1) ◽

pp. 16-21 ◽

Cited By ~ 11

Author(s):

Vandana Rai

Keyword(s):

Risk Factor ◽

Confidence Intervals ◽

Cleft Lip ◽

Methylenetetrahydrofolate Reductase ◽

Meta Analysis ◽

Case Control ◽

Mthfr Gene ◽

Medical Sciences ◽

Mthfr A1298c ◽

A1298c Polymorphism

Objective: Methyleneterahydrofolate reductase (MTHFR) A1298C polymorphism has been reported a risk factor for nonsyndromic cleft/palate (NSCL/P) in several published articles but results were inconclusive. To confirm the association between maternal MTHFR A1298C polymorphism and NSCL/P risk, a meta-analysis was conducted. Method: Case control articles for maternal MTHFR A1298C polymorphism and NSCL/P risk were identified by search of databases including PubMed, Google Scholar, Elsevier and Springer Link for the period up to December, 2013. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to assess the association. Results: Meta-analysis of ten included studies showed that there was no significant association between maternal MTHFR A1298C polymorphism and risk of NSCL/P under five genetic models (for C versus A, OR= 1.007, 95 % CI= 0.89-1.13, P=0.90; for CC versus AA, OR=0.851, 95 % CI = 0.63-1.15, P=0.30.; for AC versus AA, OR= 1.033, 95 % CI= 0.88-1.21, P= 0.69; for CC+AC versus AA, OR= 1.005, 95 % CI= 0.86-1.17, P=0.94; for CC versus AC+AA, OR= 0.86, 95 % CI= 0.64-1.15, P= 0.32). Conclusion: In conclusion, results of present meta-analysis demonstrate that maternal MTHFR A1298C polymorphism may not be a risk factor for developing NSCL/P in offspring. Further studies with large sample sizes are needed to evaluate the association of maternal MTHFR A1298C polymorphism with NSCL/P in more detail. DOI: http://dx.doi.org/10.3126/ajms.v6i1.10281 Asian Journal of Medical Sciences Vol.6(1) 2015 16-21

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Methylenetetrahydrofolate reductase polymorphisms as risk factors for retinal venous occlusive disease: A literature review

European Journal of Ophthalmology ◽

10.1177/11206721211000647 ◽

2021 ◽

pp. 112067212110006

Author(s):

Manuel Marques ◽

Francisco Alves ◽

Miguel Leitão ◽

Catarina Rodrigues ◽

Joana Tavares Ferreira

Keyword(s):

Risk Factors ◽

Literature Review ◽

Methylenetetrahydrofolate Reductase ◽

Mthfr C677t ◽

Mthfr Gene ◽

Mthfr Polymorphisms ◽

Vein Occlusion ◽

C677t Mutation ◽

Retinal Vascular Disease

The role of polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene in retinal vein occlusion (RVO) is a theme of discussion since the first reports of RVO in patients with MTHFR C677T mutation and without classic acquired risk factors for retinal vascular disease. The association between MTHFR polymorphisms and RVO has been studied over the last 20 years producing conflicting results. This review aims to summarize the literature concerning the role MTHFR polymorphisms as risk factors for RVO.

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COVID‐19 spreading across world correlates with C677T allele of the methylenetetrahydrofolate reductase (MTHFR) gene prevalence

Journal of Clinical Laboratory Analysis ◽

10.1002/jcla.23798 ◽

2021 ◽

Author(s):

Giovanni Ponti ◽

Lorenza Pastorino ◽

Marco Manfredini ◽

Tomris Ozben ◽

Gabriella Oliva ◽

...

Keyword(s):

Methylenetetrahydrofolate Reductase ◽

Mthfr Gene

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Correlation between Methylenetetrahydrofolate Reductase Polymorphisms and Hepatocellular Carcinoma: A Meta-Analysis

Annals of Nutrition and Metabolism ◽

10.1159/000496428 ◽

2019 ◽

Vol 74 (3) ◽

pp. 251-256 ◽

Cited By ~ 1

Author(s):

Hailong Su ◽

Guo Zhang

Keyword(s):

Hepatocellular Carcinoma ◽

Gene Polymorphisms ◽

Methylenetetrahydrofolate Reductase ◽

Meta Analysis ◽

Random Effect ◽

Recessive Model ◽

Mthfr Gene ◽

Systematic Research ◽

The Relationship ◽

Random Effect Models

Background: The correlation between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and hepatocellular carcinoma (HCC) remains controversial. Objectives: We performed this study to better assess the relationship between MTHFR gene polymorphisms and the likelihood of HCC. Methods: A systematic research of PubMed, Medline, and Embase was performed to retrieve relevant articles. ORs and 95% CIs were calculated. Results: A total of 15 studies with 8,378 participants were analyzed. In overall analyses, a significant association with the likelihood of HCC was detected for the rs1801131 polymorphism with fixed-effect models (FEMs) in recessive comparison (p = 0.002, OR 0.62, 95% CI 0.43–0.82). However, no positive results were detected for the rs1801133 polymorphism in any comparison. Further subgroup analyses revealed that the rs1801131 polymorphism was significantly associated with the likelihood of HCC in Asians with both FEMs (recessive model: p < 0.0001, OR 0.42, 95% CI 0.29–0.62; allele model: p = 0.004, OR 1.20, 95% CI 1.06–1.35) and random-effect models (recessive model: p = 0.002, OR 0.47, 95% CI 0.29–0.75). Nevertheless, we failed to detect any significant correlation between the rs1801133 polymorphism and HCC. Conclusions: Our findings indicated that the rs1801131 polymorphism may serve as a genetic biomarker of HCC in Asians.

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