Objective: The present meta-analysis is intended to assess the association between NSCL/P risk and methylenetetrahydrofolate reductase (MTHFR) A1298C polymorphism in case-control studies.
Materials And Methods: The Web of Science, PubMed/Medline, Scopus, and Cochrane Library databases were searched for related articles published by April 2019. Review Manager 5.3 was applied to measure the odds ratios (ORs) with 95% confidence interval (CI) in the analyses assessing the strength of the association between A1298C polymorphism and NSCL/P risk. Results Sixteen studies were involved and analysed in this meta-analysis. Altogether, the reviewed articles included 2677 NSCL/P patients and 3669 controls. The pooled ORs of the allele, homozygote, heterozygote, dominant, and recessive models were 1.11 (95% CI: 0.94, 1.30; P=0.21), 1.14 (95% CI: 0.94, 1.37; P=0.18), 0.98 (95% CI: 0.80, 1.20; P=0.87), 1.03 (95% CI: 0.86, 1.22; P=0.79), and 1.18 (95% CI: 0.99, 1.41; P=0.07), respectively. The analysis did not identify any significant association between the polymorphism and the risk of NSCL/P in any ethnicity or source of controls.
Conclusions: This meta-analysis revealed that A1298C polymorphism is not associated with NSCL/P susceptibility, and the subgroup analyses based on ethnicity and the source of cases further confirmed this result.
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http://dx.doi.org/10.1016/j.ortho.2020.01.012 | DOI Listing |
Transl Stroke Res
January 2025
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, No.119 Nan Si Huan Xi Road, Fengtai District, Beijing, China.
Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) polymorphisms are known risk factors for vascular diseases due to the impact on folate metabolism dysfunction and homocysteine (Hcy) accumulation. This study aimed to investigate the association between folate metabolism risk and hemorrhagic risk in moyamoya disease (MMD). In this prospective study, we enrolled 350 MMD patients with complete genotype data for MTHFR and MTRR.
View Article and Find Full Text PDFMedicina (Kaunas)
December 2024
Department of Medical Biology and Genetics, Faculty of Medicine, University of Rijeka, 51000 Rijeka, Croatia.
: Preterm birth (PTB) is a complex condition with various contributing factors, including genetic and epigenetic influences such as DNA methylation. Methylenetetrahydrofolate reductase (MTHFR) plays a critical role in DNA methylation and the remethylation of homocysteine. This study aimed to investigate the association between maternal MTHFR C677T and A1298C polymorphisms, LINE-1 DNA methylation levels, and the risk of idiopathic spontaneous preterm birth (SPTB) in Caucasian women from Croatia and Slovenia.
View Article and Find Full Text PDFRSC Adv
January 2025
Nanobiosensing and Microfluidic Point-of-Care Testing, Key Laboratory of Luzhou, Department of Clinical Laboratory, The Affiliated Traditional Chinese Medicine Hospital, Southwest Medical University Luzhou Sichuan 646000 PR China
Accurate, rapid, and multiplex SNP analysis holds significant clinical value. However, the inevitable nucleic acid extraction, involving centrifugation, heating, and magnetic separation, is often time-consuming. In this study, direct blood PCR was combined with dual-labelled probe-mediated melting curves to identify SNPs corresponding to MTHFR (C677T, rs#1801133 and A1298C, rs#1801131) and MTRR (A66G, rs#1801394) in a single tube.
View Article and Find Full Text PDFNutr Neurosci
December 2024
School of Epidemiology and Public Health, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.
Folate and vitamin B status, through their critical involvement in DNA synthesis and methylation, may be causally related to the risk of schizophrenia. However, associations with blood status measures may reflect reverse causation or inadequate control for confounders. We aimed to synthesize evidence on the possible causal link between folate/vitamin B status and schizophrenia using genetic variants as instrumental variables.
View Article and Find Full Text PDFMed Sci (Basel)
November 2024
Dietetetics and Biomedical Department, School of Health Sciences Aegean College, 45 Tsimiski Str., 54623 Thessaloniki, Greece.
Background: Thrombophilia, characterized by an increased risk of thrombosis, can result from genetic polymorphisms in clotting factors. This study aims to investigate the prevalence of factor V Leiden (G1691A), factor II prothrombin (G20210A), and MTHFR (C677T and A1298C) polymorphisms in a Greek population, evaluating not only their association with thrombophilia, but also broader health implications.
Methods: We conducted a cross-sectional study involving one hundred apparently healthy adults from Thessaloniki, Greece.
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