scholarly journals The effect of A1298c polymorphism of the MTHFR gene on anti‐Müllerian hormone levels: experimental and Web‐based analysis

2021 ◽  
Author(s):  
Seyedeh Zahra Shahrokhi ◽  
Faranak Kazerouni ◽  
Firouzeh Ghaffari ◽  
Morteza Hadizadeh ◽  
Zahra Zolfaghary
Keyword(s):  
Mthfr Gene ◽  
Web Based ◽  
Hormone Levels ◽  
A1298c Polymorphism

scholarly journals Evaluation of c677t and a1298c polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study)

2017 ◽  
Vol 25 (1) ◽  
pp. 27-35
Author(s):  
Simona Bucerzan ◽  
Radu Anghel Popp ◽  
Raluca Maria Vlad ◽  
Cecilia Lazea ◽  
Radu Nicolaescu ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr Gene ◽  
Control Group ◽  
Healthy Children ◽  
Mthfr Polymorphisms ◽  
Maternal Risk ◽  
Reductase Gene ◽  
A1298c Polymorphism ◽  
Methylenetetrahydrofolate Reductase Gene

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.

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

Andrologia ◽  
2014 ◽  
Vol 47 (1) ◽  
pp. 42-46 ◽  
Author(s):  
V. B. Ucar ◽  
B. Nami ◽  
H. Acar ◽  
M. Kılınç
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Mthfr Gene ◽  
A1298c Polymorphism

scholarly journals MTHFR gene A1298C polymorphism and Alzheimer’s disease susceptibility

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.

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

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.

A Meta-Analysis of the Relationship between MTHFR Gene A1298C Polymorphism and the Risk of Adult Stroke

2014 ◽  
Vol 38 (6) ◽  
pp. 425-432 ◽  
Author(s):  
Ming-Jie Zhang ◽  
Zi-Cheng Hu ◽  
Yan-Wei Yin ◽  
Bing-Hu Li ◽  
Yun Liu ◽  
...  
Keyword(s):  
Meta Analysis ◽  
Mthfr Gene ◽  
A1298c Polymorphism ◽  
The Relationship

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

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

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

2007 ◽  
Vol 25 (24) ◽  
pp. 3726-3731 ◽  
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.

scholarly journals A1298C polymorphism in the MTHFR gene predisposes to cardiovascular risk in rheumatoid arthritis

2010 ◽  
Vol 12 (2) ◽  
pp. R71 ◽  
Author(s):  
Rogelio Palomino-Morales ◽  
Carlos Gonzalez-Juanatey ◽  
Tomas R Vazquez-Rodriguez ◽  
Luis Rodriguez ◽  
Jose A Miranda-Filloy ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Cardiovascular Risk ◽  
Mthfr Gene ◽  
A1298c Polymorphism
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