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

2019 ◽  
Author(s):  
Vandana Rai

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.

2019 ◽  
Author(s):  
Vandana Rai

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.


2019 ◽  
Author(s):  
Vandana Rai

AbstractMethylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in folate metabolism, DNA synthesis and methylation. A number of studies have examined the association of maternal MTHFR A1298C polymorphism with congenital heart disease (CHD) susceptibility; however, the conclusions were contradictory. To clarify the influence of maternal MTHFR A1298C polymorphism on CHD, a meta-analysis of seventeen case- control studies was carried out. Four electronic databases - Pubmed, Google Scholars, Elsevier and Springer Link were searched upto June, 2018 for suitable articles. The pooled odds ratios (ORs) with 95% confidence intervals (95% CIs) were used to evaluate the association. Meta-analysis was performed by Mix and MetaAnalyst programs. The results of meta-analysis suggested that except co-dominant model, maternal A1298C polymorphism is risk for CHD in fetus using overall comparisons in four genetic models (C vs. A: OR= 1.19, 95% CI= 1.00-1.41, p= 0.04; CC+AC vs. AA: OR= 1.19, 95% CI= 0.97-1.4, p= 0.04; CC vs. AA: OR= 1.46, 95% CI= 1.00-2.13, p= 0.04; AC vs. AA OR= 1.13, 95% CI=0.93-1.36, p= 0.23; CC vs. AC+AA: OR=1.34, 95% CI=1.1-1.6, p=0.01). Publication bias was absent using four genetic models. In conclusion, results of present meta-analysis showed significant association between maternal MTHFR A1298C polymorphism and CHD risk.


2019 ◽  
Author(s):  
Vandana Rai ◽  
Pradeep Kumar

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.


Author(s):  
Atiyeh Javaheri ◽  
Sahel Khajehnoori ◽  
Elnaz Foroughi ◽  
Rezvan Nasiri ◽  
Soudabeh Farahnak ◽  
...  

Background: A few studies have been conducted to explore the association of MTHFR A1298C (rs1801131) polymorphism with preterm birth risk, the results remain inconsistent. Therefore, we conducted a meta-analysis to derive a more systematic estimation of the association.   Method: Relevant studies were searched by PubMed, EMBASE, CNKI, and Google Scholar up to June 2018. The strength of the association of MTHFR A1298C polymorphism with preterm birth was calculated by odds ratios (OR) with 95% confidence interval (95%CI).   Results: A total of nine case-control studies with 1,609 cases and 14,981 controls were included. Pooled results showed that there was no significant association between MTHFR A1298C polymorphism and preterm birth risk under all five genetic models in overall. However, in the stratified analysis of ethnicity, a significant association between MTHFR A1298C polymorphism and preterm birth risk was observed in the Asians under four genetic models, i.e., allele (C vs. A: OR = 0.960, 95% CI 0.543-0.871, P = 0.002), heterozygote (CA vs. AA: OR = 0.887, 95% CI 0.024-0.457, P = 0.003), dominant (CC+CA vs. AA: OR = 0.965, 95% CI 0.534 -0.935, P = 0.015) and recessive (CC vs. CA+AA: OR = 0.923, 95% CI 0.026-0491, P = 0.004), but not in Caucasians.   Conclusion: This meta-analysis suggested that MTHFR A1298C polymorphism is not associated with preterm birth risk in overall population. However, MTHFR A1298C polymorphism plays an important role in preterm birth development in Asian population.


2014 ◽  
Vol 6 (1) ◽  
pp. 16-21 ◽  
Author(s):  
Vandana Rai

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


2005 ◽  
Vol 63 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Liana Lisboa Fernandez ◽  
Rosane Machado Scheibe

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.


2020 ◽  
Vol 18 (2) ◽  
pp. 191-202
Author(s):  
Mohammad Moslem Imani ◽  
Farzad Rezaei ◽  
Hosna Mire ◽  
Mohadeseh Delavarian ◽  
Masoud Sadeghi ◽  
...  

2012 ◽  
Vol 259 (8) ◽  
pp. 1519-1529 ◽  
Author(s):  
Xue Qin ◽  
Qiliu Peng ◽  
Zhiyu Zeng ◽  
Zhiping Chen ◽  
Liwen Lin ◽  
...  

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