scholarly journals Assessing the association between the methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism and blood folate concentrations: a systematic review and meta-analysis of trials and observational studies

2015 ◽  
Vol 101 (6) ◽  
pp. 1286-1294 ◽  
Author(s):  
Becky L Tsang ◽  
Owen J Devine ◽  
Amy M Cordero ◽  
Claire M Marchetta ◽  
Joseph Mulinare ◽  
...  

ABSTRACTBackground: The methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism is a risk factor for neural tube defects. The T allele produces an enzyme with reduced folate-processing capacity, which has been associated with lower blood folate concentrations.Objective: We assessed the association between MTHFR C677T genotypes and blood folate concentrations among healthy women aged 12–49 y.Design: We conducted a systematic review of the literature published from January 1992 to March 2014 to identify trials and observational studies that reported serum, plasma, or red blood cell (RBC) folate concentrations and MTHFR C677T genotype. We conducted a meta-analysis for estimates of percentage differences in blood folate concentrations between genotypes.Results: Forty studies met the inclusion criteria. Of the 6 studies that used the microbiologic assay (MA) to measure serum or plasma (S/P) and RBC folate concentrations, the percentage difference between genotypes showed a clear pattern of CC > CT > TT. The percentage difference was greatest for CC > TT [S/P: 13%; 95% credible interval (CrI): 7%, 18%; RBC: 16%; 95% CrI: 12%, 20%] followed by CC > CT (S/P: 7%; 95% CrI: 1%, 12%; RBC: 8%; 95% CrI: 4%, 12%) and CT > TT (S/P: 6%; 95% CrI: 1%, 11%; RBC: 9%; 95% CrI: 5%, 13%). S/P folate concentrations measured by using protein-binding assays (PBAs) also showed this pattern but to a greater extent (e.g., CC > TT: 20%; 95% CrI: 17%, 22%). In contrast, RBC folate concentrations measured by using PBAs did not show the same pattern and are presented in the Supplemental Material only.Conclusions: Meta-analysis results (limited to the MA, the recommended population assessment method) indicated a consistent percentage difference in S/P and RBC folate concentrations across MTHFR C677T genotypes. Lower blood folate concentrations associated with this polymorphism could have implications for a population-level risk of neural tube defects.

Author(s):  
Becky Tsang ◽  
Amy Cordero ◽  
Claire Marchetta ◽  
Joseph Mulinare ◽  
Patricia Mersereau ◽  
...  

Objectives: The methylenetetrahydrofolate reductase (MTHFR) 677C->T polymorphism is a risk factor for neural tube birth defects (NTDs). The T allele produces an enzyme with reduced folate processing capacity, which has been shown to produce lower blood folate concentrations in some studies. Our objective was to assess the association between MTHFR C677T genotypes (CC, CT, TT) and blood folate concentrations among women aged 12-49 years. Methods: We conducted a systematic review of literature published between 1/1992-7/2013 to identify controlled trials and observational studies that reported serum, plasma, or red blood cell (RBC) folate concentrations and MTHFR C677T genotype. We applied a Bayesian random-effects model to predict differences in blood folate concentrations between MTHFR C677T genotypes, stratified by folate assay. Results: Thirty-eight studies met criteria for inclusion. Serum/plasma folate concentrations showed a consistent genotype trend with the highest concentrations for CC (CC > CT > TT) regardless of assay type. RBC folate concentrations measured by microbiologic assay also demonstrated this trend; however, this trend was reversed (CC < CT < TT) in studies using protein-binding assays. Conclusions: Meta-analyses results showed blood folate concentrations differed by assay type and genotype. Previous evidence has shown that RBC folate concentrations measured with a radioimmunoassay requires adjustment for genotype-dependent folate recovery; our results suggest that other protein-binding assays could have similar limitations. Compared to CC individuals, TT individuals have lower blood folate concentrations, which may increase a woman's risk for an NTD-affected pregnancy.


Author(s):  
Razieh Sadat Tabatabaei ◽  
Neda Fatahi-Meibodi ◽  
Bahare Meibodi ◽  
Atiyeh Javaheri ◽  
Hajar Abbasi ◽  
...  

2018 ◽  
Vol 80 ◽  
pp. 157-158
Author(s):  
Marine Auffret ◽  
Judith Cottin ◽  
Aurore Gouraud ◽  
Michel Cucherat

2019 ◽  
Vol 78 (1) ◽  
pp. 227-235 ◽  
Author(s):  
Shanshan Jia ◽  
Xiaowei Wei ◽  
Ling Ma ◽  
Yanfu Wang ◽  
Hui Gu ◽  
...  

PLoS ONE ◽  
2016 ◽  
Vol 11 (10) ◽  
pp. e0159039 ◽  
Author(s):  
Séverine Deguen ◽  
Wahida Kihal ◽  
Maxime Jeanjean ◽  
Cindy Padilla ◽  
Denis Zmirou-Navier

Author(s):  
Sara Soleimani-Jadidi ◽  
Bahare Meibodi ◽  
Atiyeh Javaheri ◽  
Razieh Sadat Tabatabaei ◽  
Amaneh Hadadan ◽  
...  

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Mohammed Oumer ◽  
Ashenafi Tazebew ◽  
Mezgebu Silamsaw

Abstract Background Neural tube defects are common congenital anomalies that result from early malformation in the development of the spinal cord and brain. It is related to substantial mortality, morbidity, disability, and psychological and economic costs. The aim of this review is to determine the pooled birth prevalence of neural tube defects and associated risk factors in Africa. Methods The first outcome of this review was the pooled birth prevalence of the neural tube defects and the second outcome was the pooled measure of association between neural tube defects and associated risk factors in Africa. We systematically searched PubMed, PubMed Central, Joanna Briggs Institute, Google Scopus, Cochrane Library, African Journals Online, Web of Science, Science Direct, Google Scholar, and Medline databases. The heterogeneity of studies was assessed using the Cochrane Q test statistic, I2 test statistic, and, visually, using Forest and Galbraith’s plots. A random-effect model was applied to get the pooled birth prevalence of neural tube defects. Subgroup, sensitivity, meta-regression, time-trend, and meta-cumulative analyses were undertaken. The fixed-effect model was used to analyze the association between neural tube defects and associated risk factors. Results Forty-three studies with a total of 6086,384 participants were included in this systematic review and meta-analysis. The pooled birth prevalence of the neural tube defects was 21.42 (95% CI (Confidence Interval): 19.29, 23.56) per 10,000 births. A high pooled birth prevalence of neural tube defects was detected in Algeria 75 (95% CI: 64.98, 85.02), Ethiopia 61.43 (95% CI: 46.70, 76.16), Eritrea 39 (95% CI: 32.88, 45.12), and Nigeria 32.77 (95% CI: 21.94, 43.59) per 10,000 births. The prevalence of neural tube defects has increased over time. Taking folic acid during early pregnancy, consanguineous marriage, male sex, and substance abuse during pregnancy were assessed and none of them was significant. Conclusions The pooled birth prevalence of neural tube defects in Africa was found to be high. The risk factors evaluated were not found significant.


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