The predisposition to stroke might involve interactive effects among variants in several genes. We tested this hypothesis by examining the influence of polymorphisms in methylenetetrahydrofolate reductase (MTHFR) (C677T) and prothrombin (F2) (G20210A) as risk factors for stroke in Morocco. The polymerase chain reaction-restriction fragment length polymorphism methods were used to analyze DNA from 91 stroke patients and 182 controls. Association between the two polymorphisms and the risk of stroke was estimated by four-level models for the analysis of genetic interaction. Neither the MTHFR 677TT nor the F2 20210GA genotype showed any significant association compared to the MTHFR CC and F2 GG genotypes, respectively. An interactive effect between the MTHFR 677TT and F2 20210GA polymorphisms showed an increased risk of stroke. The odds ratios, in univariate and multivariate analysis, for the combined polymorphisms were 4.99 (95% CI, 1.75-14.2, P = 0.001) and 5.29 (95% CI, 1.63-17.1, P = 0.005), respectively.
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http://dx.doi.org/10.1007/s12264-013-1381-4 | DOI Listing |
Alzheimers Dement
December 2024
Department of Neurosurgery, Clinical Neuroscience Research Center, Tulane University School of Medicine, New Orleans, LA, USA.
Background: Increasing evidence suggests that SARS-CoV-2 infection may lead to early onset and aggravation of pre-existing vascular dementia and Alzheimer's disease. Methylene tetrahydrofolate reductase (Mthfr) is a critical enzyme in folate metabolism, also required for optimal brain function. Mthfr deficient mice display cognitive impairments and neurovascular deficits and polymorphisms in MTHFR increases dementia risk.
View Article and Find Full Text PDFZhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Department of Pediatric Oncology, The Fifth Affiliated Hospital of Guangzhou Medical University, Guangzhou 510700, Guangdong Province, China.
Objective: To investigate the effect of genetic polymorphism of (rs1801133) on methotrexate (MTX) related toxicity in pediatric mature B-cell lymphoma patients.
Methods: Fifty-eight intermediate and high risk patients under 18 years of age with mature B-cell lymphoma who received 5 g/m MTX (24 h intravenous infusion) in Sun Yat-sen University Cancer Center from August 2014 to December 2021 were included, and their toxicity of high-dose MTX (HD-MTX) were monitored and analyzed.
Results: Among the 58 pediatric patients, the number of CC, CT, and TT genotypes for was 33, 19 and 6, respectively.
Anal Bioanal Chem
December 2024
State Key Laboratory of Medical Proteomics, CAS Key Laboratory of Separation Science for Analytical Chemistry, Dalian Institute of Chemical Physics, Chinese Academy of Sciences, 457 Zhongshan Road, Dalian, 116023, China.
Folate, serving as a crucial micronutrient, plays an important role in promoting human growth and supporting transformations to a variety of metabolic pathways including one-carbon, pyrimidine, purine, and homocysteine metabolism. The 5,10-methylenetetrahydrofolate reductase (MTHFR) enzyme is pivotal in the folate metabolic pathway. Polymorphism in the MTHFR gene, especially C677T, was associated with decreased enzyme activity and disturbance of folate metabolism, which is linked to various diseases including birth defects in newborns and neural tube abnormalities.
View Article and Find Full Text PDFArq Neuropsiquiatr
December 2024
Universidade Federal do Rio de Janeiro, Instituto de Puericultura e Pediatria Martagão Gesteira, Rio de Janeiro RJ, Brazil.
Background: It is believed that genetic factors play a role in the development and severity of neural injury among people with distal symmetrical polyneuropathy (DSP), because some genes are involved in specific biological pathways, acting in different ways in the pathogenic process.
Objective: To identify potential associations involving the ( C677T) and ( intron 3 variable number of tandem repeats [I3VNTR]) gene polymorphisms and DSP in the studied sample.
Methods: In total, 70 children and adolescents with type-1 diabetes underwent a nerve conduction studie (NCS) of the sural nerve.
Nutr 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.
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