scholarly journals Association between the methylenetetrahydrofolate reductase (MTHFR) gene 677C>T and 1298A>C polymorphisms and the risk of diabetic nephropathy; a meta-analysis

2019 ◽  
Vol 8 (3) ◽  
pp. 175-184
Author(s):  
Akriti Gupta ◽  
Shubhangi Sharma ◽  
Saikrishna Lakkakula ◽  
Lakkakula VKS Bhaskar
Keyword(s):  
Diabetic Nephropathy ◽  
Genetic Polymorphisms ◽  
Diabetic Kidney Disease ◽  
Methylenetetrahydrofolate Reductase ◽  
Meta Analysis ◽  
Mthfr Gene ◽  
Significant Heterogeneity ◽  
Case Control Studies ◽  
Mthfr Polymorphism ◽  
Increased Risk

Methylenetetrahydrofolate reductase (MTHFR) is involved in the homocysteine metabolism. Two common variants of MTHFR gene (677C>T and 1298A>C), have been reported to reduce the MTHFR enzyme activity and leading to plasma hyperhomocysteinemia. There are a number of recent case-control studies that investigated the association between the MTHFR polymorphism and diabetic nephropathy (DN), albeit with inconsistent results. The aim of this meta-analysis is to evaluate the associations between the genetic polymorphisms of MTHFR with susceptibility to DN. A literature search was conducted on PubMed, Embase and Google scholar from inception till March 18, 2019. For MTHFR 677C>T analysis, a total of 23 studies including DM controls (3095 cases and 3187 DM controls) and 12 studies including non-DM controls (1590 cases and 2052 nonDM controls) were taken. For MTHFR 1298A>C analysis, a total of 7 studies using DM controls (959 cases and 1209 DM controls) and 3 studies using non-DM controls (400 cases and 802 nonDM controls) were taken. Meta-analysis showed that mutant genotypes of the 677C>T (OR: 1.58; 95%CI: 1.16-2.14) and 1298A>C (OR: 1.38; 95%CI: 1.16-1.65) polymorphisms in the MTHFR gene were associated with increased risk of DN (diabetic kidney disease). MTHFR 677C>T and 1298A>C polymorphisms revealed significant heterogeneity between studies. Further, there was no evidence for publication bias for these polymorphisms. In conclusion, this meta-analysis provides strong evidence that MTHFR 677C>T and 1298A>C polymorphisms may be associated with increased risks of DN. However, further studies are still needed to accurately determine whether MTHFR genetic polymorphisms are associated with susceptibility to DN.

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 VEGF Genetic Polymorphisms May Contribute to the Risk of Diabetic Nephropathy in Patients with Diabetes Mellitus: A Meta-Analysis

2014 ◽  
Vol 2014 ◽  
pp. 1-11 ◽  
Author(s):  
Li Sun ◽  
Quan Yuan ◽  
Ning Cao ◽  
Wei Guo ◽  
Li Yao ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Diabetic Nephropathy ◽  
Genetic Polymorphisms ◽  
Meta Analysis ◽  
Cochrane Library ◽  
Clinicopathological Parameters ◽  
Nucleotide Polymorphisms ◽  
Case Control Studies ◽  
Increased Risk ◽  
Patients With Diabetes

Objective. This meta-analysis aimed to investigate a comprehensive and reliable conclusion on the correlations of single nucleotide polymorphisms (SNPs) in the vascular endothelial growth factor (VEGF) gene with the risk of diabetic nephropathy (DN) in patients with diabetes mellitus (DM). Methods. We screened PubMed, Embase, Web of Science, Cochrane Library, CISCOM, CINAHL, Google Scholar, CBM, and CNKI databases for those relevant studies that investigated the association of 14,945 subjects with clinicopathological parameters in gastric cancer. Results. Eleven case-control studies that met all inclusion criteria were included in this meta-analysis. A total of 14,945 subjects were involved, including 3,049 DN patients and 11,896 DM patients. Our meta-analysis results revealed that VEGF rs2010963 and rs3025039 polymorphisms might contribute to the risk of DN in DM patients. Ethnicity-stratified analysis suggested that VEGF genetic polymorphisms were associated with an increased risk of DN among Asians. However, we found no correlations of VEGF genetic polymorphisms with susceptibility to DN among Caucasians. Conclusion. Our findings suggest that VEGF rs2010963 and rs3025039 polymorphisms may contribute to the risk of DN in DM patients, especially among Asians. Thus, VEGF genetic polymorphisms could be useful biomarkers for early diagnosis of DN in DM patients.

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
Keyword(s):  
Male Infertility ◽  
Methylenetetrahydrofolate Reductase ◽  
Meta Analysis ◽  
Case Control ◽  
Inclusion Criteria ◽  
Case Control Studies ◽  
Crude Odds Ratio ◽  
Mthfr Polymorphism ◽  
Gene Environment ◽  
The Relationship

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.

scholarly journals The correlation between methylenetetrahydrofolate reductase gene 677C > T polymorphism and fetal congenital defects: A meta-analysis

Pteridines ◽  
2020 ◽  
Vol 31 (1) ◽  
pp. 9-17
Author(s):  
Dexia Li ◽  
Enxia Wang ◽  
Xia Gao ◽  
Ping Li
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Publication Bias ◽  
Methylenetetrahydrofolate Reductase ◽  
Meta Analysis ◽  
Random Effect ◽  
Congenital Defects ◽  
Nucleotide Polymorphism ◽  
Case Control Studies ◽  
Single Nucleotide ◽  
Increased Risk

AbstractObjective To investigate the correlation between the methylenetetrahydrofolate reductase (MTHFR) gene 677C> T polymorphism and fetal congenital defects.Method Original studies relevant to the MTHFR gene 677C>T single nucleotide polymorphism and fetal congenital defects were systematically searched in the electronic databases of Medline, EMBSE and China National Knowledge Infrastructure (CNKI). All relevant publications were screened for inclusion in the present work. The correlation between the MTHFR gene 677C > T single nucleotide polymorphism and the occurrence of fetal congenital defects was expressed as an odds ratio (OR) and its 95% confidence interval (95% CI). Publication bias was assessed by Begg’s funnel plot and Egger’s line regression test.Results Nineteen case-control studies were ultimately included in the present meta-analysis. The pooled results indicated that the general risk of fetal congenital defects was significantly elevated in subjects with the 677T allele of the MTHFR gene in dominant (OR=1.07,95%CI:1.03-1.12, P<0.05), homozygous (OR=1.17,95%CI:1.06-1.30, P<0.05) and recessive genetic models (OR=1.16,95%CI:1.03-1.31, P<0.05) through the random effect method. However, significant publication bias was identified upon pooling the individual data and evaluating the correlation.Conclusion According to the present evidence, the MTHFR gene 677C>T single nucleotide polymorphism is correlated with poor pregnancy outcomes, and subjects with the T allele have an increased risk of developing general fetal congenital defects.

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 (MTHFR), the One-Carbon Cycle, and Cardiovascular Risks

Nutrients ◽  
2021 ◽  
Vol 13 (12) ◽  
pp. 4562
Author(s):  
Shanel Raghubeer ◽  
Tandi E. Matsha
Keyword(s):  
Carbon Cycle ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr Gene ◽  
C677t Polymorphism ◽  
Cardiovascular Risks ◽  
Mthfr Polymorphism ◽  
Dna And Rna ◽  
Inflammatory Conditions ◽  
Increased Risk ◽  
The One

The 5-10-methylenetetrahydrofolate reductase (MTHFR) enzyme is vital for cellular homeostasis due to its key functions in the one-carbon cycle, which include methionine and folate metabolism and protein, DNA, and RNA synthesis. The enzyme is responsible for maintaining methionine and homocysteine (Hcy) balance to prevent cellular dysfunction. Polymorphisms in the MTHFR gene, especially C677T, have been associated with various diseases, including cardiovascular diseases (CVDs), cancer, inflammatory conditions, diabetes, and vascular disorders. The C677T MTHFR polymorphism is thought to be the most common cause of elevated Hcy levels, which is considered an independent risk factor for CVD. This polymorphism results in an amino acid change from alanine to valine, which prevents optimal functioning of the enzyme at temperatures above 37 °C. Many studies have been conducted to determine whether there is an association between the C677T polymorphism and increased risk for CVD. There is much evidence in favour of this association, while several studies have concluded that the polymorphism cannot be used to predict CVD development or progression. This review discusses current research regarding the C677T polymorphism and its relationship with CVD, inflammation, diabetes, and epigenetic regulation and compares the evidence provided for and against the association with CVD.

Abstract TP63: Risk of Contrast Induced Nephropathy After Emergency CTA in Stroke Patients: A Meta-Analysis

Stroke ◽  
2020 ◽  
Vol 51 (Suppl_1) ◽  
Author(s):  
Thirumalaivasan Dhasakeerthi ◽  
Muhammad Ishfaq ◽  
Balaji Krishnaiah ◽  
Andrei Alexandrov ◽  
Georgios Tsivgoulis
Keyword(s):  
Contrast Agents ◽  
Systematic Reviews ◽  
Meta Analysis ◽  
Significant Heterogeneity ◽  
Case Control Studies ◽  
Contrast Induced Nephropathy ◽  
Number Of Patients ◽  
Increased Risk ◽  
Meta Analyses ◽  
Contrast Ct

Background: Contrast agents for computed tomographic angiography (CTA) and perfusion (CTP) are presumed to be nephrotoxic prompting many hospitals to require serum creatinine values prior to imaging likely causing delays in door to needle times. The objective of this study is to assess the risk of developing contrast induced acute kidney injury (AKI) in patients who are undergoing CTA and CTP. Materials and Methods: We have searched the electronic databases up to July 2019 for studies that reported incidence of AKI in patients who have undergone CTA and CTP. We calculated pooled odds ratios and 95% CIs by using random-effects models for the primary end point being AKI due to contrast induced nephropathy. We followed the Preferred Reporting Items for Systematic reviews and Meta-Analyses guidelines for systematic reviews and meta-analyses. Results: Eight case control studies assessing 4,449 patients have been included in the study. The odds of AKI in CTA/CTP patients versus non-contrast CT was not statistically significant (odds ratio = 0.53, 95% CI = 0.20-1.39, p=0.199). There was no significant heterogeneity between the studies (Cochran’s Q statistic 3.632, df 4; P = .461, I2=2.514%). Overall, no AKI patient required hemodialysis due to contrast induced nephropathy. The absolute number of patients who developed AKI among CTA/CTP patients was lower than among patients who underwent just non-contrast CT (67 versus 87, NS). Conclusion: The use of contrast agents for CTA/CTP in acute stroke is not associated with an increased risk of developing contrast induced nephropathy nor AKI requiring dialysis.

Roles of Methylenetetrahydrofolate Reductase C677T Polymorphism in Repeated Pregnancy Loss

2005 ◽  
Vol 11 (3) ◽  
pp. 343-345 ◽  
Author(s):  
Viroj Wiwanitkit
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Risk Estimation ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
C677t Polymorphism ◽  
Case Control Studies ◽  
Clinical Role ◽  
Mthfr C677t Polymorphism ◽  
Increased Risk ◽  
Considerable Controversy

Congenital thrombophilia in repeated pregnancy lost (RPL) has been noted for years. Methylenetetrahydrofolate reductase (MTHFR) gene is an interesting gene, mentioned for its possible roles in RPL. There is considerable controversy regarding the clinical role of MTHFR C677T polymorphism as a risk factor of RPL. Here, a summative analysis is performed on the recent previous reports on the MTHFR C677T and its correlation to RPL. The metanalysis was performed to assess the correlation between the pattern of MTHFR C677T polymorphism and RPL. From available eight case-control studies, 752 patients and 625 controls are evaluated. The overall frequencies of 4G allele for the patients and controls are 31.5 and 33.5, respectively. According to this study, 53.1% of subjects with T allele have RLP while 55.3% of subjects without T allele have RLP. From overall risk estimation, the subjects with T alleles have 0.96 times lower risk to RLP. According to this analysis, the pattern of MTHFR C677T polymorphism might not represent a useful marker of increased risk for RPL. In addition, there was no association between pattern of MTHFR C677T polymorphism and ethnicity of the patients in this study.

scholarly journals Relation between Methylenetetrahydrofolate Reductase C677T and A1298C Polymorphisms and Migraine Susceptibility

2019 ◽  
Author(s):  
Vandana Rai ◽  
Pradeep Kumar
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Association Studies ◽  
Meta Analysis ◽  
Asian Population ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Genetic Models ◽  
C677t Polymorphism ◽  
Case Control Studies ◽  
Mthfr C677t Polymorphism

AbstractMigraine is a neurological disorder which impairs the patient’s quality of life. Several association studies investigating the association between MTHFR gene C677T and A1298C polymorphisms and susceptibility to migraine were published. But the results were conflicting, so authors performed a meta-analysis of published case control studies. Four databases were searched for suitable studies up to December, 2018. Odds ratios (OR) with 95% confidence intervals (CI) was calculated adopting additive, homozygote, co-dominant, dominant, and recessive genetic models.Results of MTHFR C677T polymorphism studies meta-analysis showed significant association with migraine risk using allele contrast, homozygote, dominant and recessive genetic models (T vs. C: OR = 1.18, 95%CI = 1.00-1.26, p= 0.05; TT vs. CC: OR = 1.24, 95%CI = 1.0-1.5, p= 0.04; CT vs. CC: OR = 1.08, 95%CI = 0.97-1.07, p= 0.25; TT+CT vs. CC: OR = 1.15, 95%CI = 1.0-1.29, p= 0.04; TT vs. CT +CC: OR = 1.97, 95%CI = 1.28-3.42, p= 0.002). However, results of MTHFR A1298 polymorphism studies meta-analysis did not show any association with migraine. Subgroup analysis based on ethnicity and migraine types i. e migraine with aura (MA) and without aura (MO) were also performed. Results of present meta-analysis indicate overall association between MTHFR C677T polymorphism with migraine in total 24 studies, in Asian population and in MA cases but did not show any association with Caucasian population and MO cases.

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