Epidemiological studies have evaluated the association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and primary open-angle glaucoma (POAG) risk. However, the results remain conflicting. The aim of this study was to investigate the association between MTHFRC677T polymorphism and POAG risk. All genetic association studies on MTHFR C677T polymorphism and POAG were systematically searched by the electronic databases PubMed, Embase and Web of Science. Study selection, data abstraction and study quality evaluation were conducted in duplicate independently. The strength of association between MTHFR C677T polymorphism and POAG was measured by odds ratios (ORs) and 95% confidence intervals (CIs). Publication bias was tested by Begg's funnel plot and Egger's regression test. A total of 10 studies including 1224 cases and 1105 controls were included in our final meta-analysis. There was no evidence of significant association of the overall population (for allelic model: OR=1.17, 95% CI=0.94-1.46; for additive model: OR=1.15, 95% CI=0.85-1.57; for dominant model: OR=1.19, 95% CI=0.92-1.55 and for recessive model: OR=1.11, 95% CI=0.83-1.49). Significant associations were found between MTHFR C677T polymorphisms and POAG in allelic model (OR=1.39, 95% CI=1.05-1.83) and additive model (OR=1.88, 95% CI=1.04-3.43) for population-based (PB) subgroup. This meta-analysis suggested that there were significant associations between MTHFR C677T polymorphism and POAG in allelic model and additive model for PB subgroup which indicated that the T allele or TT genotype might increase the risk of POAG, whereas no evidence of significant association was shown of the overall studied population. However, this conclusion should be interpreted cautiously. More large sample-size and multi-ethnicity studies with well-defined POAG patients and well-study design are needed in the future study.
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http://dx.doi.org/10.1016/j.gene.2012.10.067 | DOI Listing |
Nutrients
December 2024
Department of Cardiology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing 100034, China.
The relationship between folate concentrations and stroke risk remains unestablished, and the mediation effect of homocysteine (Hcy) and interaction effect of methylenetetrahydrofolate reductase () gene polymorphism has yet to be investigated. This cohort study involved 4903 subjects derived from a Chinese community population. The association between folate and first stroke was examined in Cox proportional hazard regression models.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Pharmacology and Clinical Pharmacy, Faculty of Pharmacy, Universitas Padjadjaran, Jatinangor, Indonesia.
Rheumatoid Arthritis (RA) is a chronic and progressive autoimmune disease that affects synovial tissues has greater risk of developing secondary osteoporosis (OP). In particular, polymorphisms in Adenosine Monophosphate Deaminase 1 (AMPD1) and Methylenetetrahydrofolate Reductase (MTHFR) affect the outcome of methotrexate (MTX) treatment in patients with RA. Therefore, this study aimed to determine the association of AMPD1 rs17602729, MTHFR C677T, and MTHFR A1298C polymorphisms with MTX activity in RA patients.
View Article and Find Full Text PDFPregnancy Hypertens
January 2025
Faculté des Sciences de Tunis, Université de Tunis El Manar, Tunis, Tunisia; Department of Biological Sciences, Brock University, St. Catharines, Canada. Electronic address:
Unlabelled: Preeclampsia (PE) is a pregnancy-specific vascular disorder associated with endothelial dysfunction, hypertension, and proteinuria. The methylenetetrahydrofolate reductase (MTHFR) enzyme regulates essential cellular functions in pregnancy owing to its effects on folate metabolism and DNA methylation. Previous studies implicated the association of rs1801133 (C677T; Ala222Val) and rs1801131 (A1298C; Glu429Ala) in the MTHFR gene with PE in different ethnic groups, but with mixed outcomes.
View Article and Find Full Text PDFGenet Mol Biol
January 2025
University of KwaZulu-Natal, Howard College, College of Health Sciences, School of Laboratory Medicine and Medical Sciences, Department of Medical Biochemistry, Durban, South Africa.
Methylenetetrahydrofolate reductase (MTHFR) gene is involved in homocysteine and folic acid metabolism. Tumour suppressor protein TP53 gene maintains cellular and genetic integrity. To date, no studies associated the MTHFR C677T rs1801133 and TP53 Pro72Arg rs1042522 with CRP levels and methotrexate (a folic acid antagonist) treatment outcomes in psoriatic arthritis (PsA) patients.
View Article and Find Full Text PDFNeurology
February 2025
Department of Integrated Traditional Chinese and Western Medicine, The Third Affiliated Hospital of Soochow University, Changzhou, China.
Background And Objectives: Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme that regulates folate and homocysteine metabolism. Genetic variation in has been implicated in cerebrovascular disease risk, although research in diverse populations is lacking. We thus aimed to investigate the effect of genetically predicted MTHFR activity on risk of ischemic stroke (IS) and its main subtypes using a multiancestry Mendelian randomization (MR) approach.
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