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

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

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.

scholarly journals Is MTHFR polymorphism a risk factor for Alzheimer's disease like APOE?

2005 ◽  
Vol 63 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Liana Lisboa Fernandez ◽  
Rosane Machado Scheibe
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Risk Factor ◽  
Methylenetetrahydrofolate Reductase ◽  
Venous Blood ◽  
Dna Amplification ◽  
Mthfr Gene ◽  
Chi Square ◽  
Mthfr Polymorphism ◽  
Significant Difference

BACKGROUND: The role of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms as risk factors for the occurence of Alzheimer's disease (AD) is still controversial: OBJECTIVE: To verify the association between MTHFR and apolipoprotein E (APOE) polymorphisms and Alzheimer's disease. METHOD: This work was conducted as a case-control study. Cases included thirty patients with probable AD. Controls were constituted by 29 individuals without dementia according to neuropsychological tests paired to age, sex, race and educational level. DNA was isolated from peripheral leukocytes of anticoagulated venous blood. Genotyping of APOE and MTHFR were performed by DNA amplification and digestion. The frequences of APOE and MTHFR genotypes were submitted by chi-square test corrected by Fisher test; the APOE genotypes, to chi-square linear tendency test and the frequences of MTHFR mutant and AD, by stratificated anlysis adjust by Mantel-Haenszel method. RESULTS: There was significant difference about APOE4 and APOE2 in the groups. (p=0.002) The odds ratio increased exponentially with the increased number of E4 allele (chi2 linear tendency test). No significant difference was detected on MTHFR genotypes in both case and control groups. CONCLUSION: The APOE4 is a risk factor and demonstrated a dose-depenent effect while APOE2 allele conferred a protection to AD. The MTHFR mutation had no correlation with AD.

Role of 677C→T polymorphism a single substitution in methylenetetrahydrofolate reductase (MTHFR) gene in North Indian infertile men

2013 ◽  
Vol 41 (2) ◽  
pp. 573-579 ◽  
Author(s):  
Hena Naqvi ◽  
Syed Rizwan Hussain ◽  
Mohammad Kaleem Ahmad ◽  
Farzana Mahdi ◽  
Shyam Pyari Jaiswar ◽  
...  
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Mthfr Gene ◽  
Infertile Men ◽  
Single Substitution

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.

scholarly journals Hubungan Anemia Pada Ibu Hamil Terhadap Kejadian BBLR di RSIA Sitti Khadijah 1 Makassar

2021 ◽  
Vol 2 (1) ◽  
pp. 27-35
Author(s):  
KHartina Burhan ◽  
Dahliah Dahliah ◽  
Nevi Sulvita Karsa
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Pregnant Women ◽  
P Value ◽  
Chi Square ◽  
Cross Sectional ◽  
Mild Anemia ◽  
Mother And Child ◽  
Moderate Anemia ◽  
Child Hospital

In 2011, there were 32.4 million pregnant women aged 15-49 years in the world experiencing anemia. Data (WHO 2011) shows that around (30%) pregnant women in Indonesia experience anemia. This figure is higher compared to some other countries in Southeast Asia such as Malaysia (27%), Singapore (28%), and Vietnam (23%). This study aims to determine the relationship of anemia in pregnant women with the incidence of low birth weight babies (LBW) in the Mother and Child Hospital Sitti Khadijah 1 Makassar in 2018. Research conducted is descriptive analytic using cross sectional method in which a study, variables including risk factors and variables including effects are observed at once at the same time. Based on data from 70 pregnant women who have anemia, there are 66 pregnant women classified as mild anemia (94.3%) and 4 pregnant women with moderate anemia category (5.7%). Of the 23 pregnant women who gave birth to LBW babies were categorized into mild anemia as many as 22 (31.4%) and moderate anemia as much as 1 (1.42%). Based on the chi-square statistical test results obtained p value> 0.05 (p = 0.601) which means there is no significant relationship between anemia in pregnant women with the incidence of low birth weight in the Mother and Child Hospital Sitti Khadijah 1 Makassar in 2018.

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