Methyltetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism, and its single nucleotide polymorphism (SNP) site C677T may be associated with gastrointestinal cancer. However, the relationship between MTHFR C677T polymorphism and gastrointestinal tumor markers carcinoma embryonic antigen (CEA), carbohydrate antigen 199 (CA199) and carbohydrate antigen 724 (CA724) in () infection is not specified. This study aims to identify the association between MTHFR C677T polymorphism and gastrointestinal tumor markers (CEA, CA199 and CA724) in H. pylori infection. The relationship between MTHFR C677T polymorphism and gastrointestinal tumor markers in 58 patients with H. pylori infection and 94 non-infected patients was studied. We found that TT genotype was a susceptibility factor of infection, which was also associated with increased CEA and CA724 levels. Moreover, there was a negative additive interaction between gene C677T polymorphism and CEA levels in infection. Meanwhile, there were significant differences in CEA levels between MTHFR C677T polymorphism and infection. The presence of T allele led to a decrease in CEA levels when C urea breath test (C-UBT) was positive, while the presence of T allele led to an increase in CEA levels when C-UBT was negative. Therefore, we suggest that healthy people should take MTHFR C677T polymorphism screening, combined with C-UBT and gastrointestinal tumor markers detection, which can screen out the susceptible population of H. pylori, and help to detect gastrointestinal cancer in the early stage.
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http://dx.doi.org/10.1016/j.gendis.2021.02.011 | DOI Listing |
Neurology
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.
View Article and Find Full Text PDFTransl 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 PDFInt J Mol Sci
December 2024
Department of Psychiatry, Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA 5000, Australia.
The ( C677T gene polymorphism is associated with neurological disorders and schizophrenia. Patients diagnosed with schizophrenia and schizoaffective disorder and controls ( 134) had data collected for risk factors, molecular and neuro-sensory variables, symptoms, and functional outcomes. Promising gene variant-related predictive biomarkers were identified for diagnosis by Receiver Operating Characteristics and for illness duration by linear regression.
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.
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