نتایج جستجو برای: ژن mthfr

تعداد نتایج: 18761  

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2005
Qiuling Shi Zhendong Zhang Guojun Li Patricia C Pillow Ladia M Hernandez Margaret R Spitz Qingyi Wei

Methylenetetrahydrofolate reductase (MTHFR) catalyzes the metabolism of folate and nucleotides needed for DNA synthesis and repair. Variations in MTHFR functions likely play roles in the etiology of lung cancer. The MTHFR gene has three nonsynonymous single nucleotide polymorphisms (i.e., C677T, A1298C, and G1793A) that have a minor allele frequency of >5%. We investigated the associations betw...

Journal: :Journal of the Korean neurological association 2023

This corrects the article "Neurological Manifestations of MTHFR-related Hyperhomocysteinemia" in volume 41 on page 68.

Journal: :Heart, lung & circulation 2014
Chia-Sheng Chao Jeng Wei Hurng-Wern Huang Shyh-Chyun Yang

BACKGROUND Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C gene polymorphisms are associated with the risk of patent ductus arteriosus (PDA) congenital heart defects. This study aimed to determine the association of these polymorphisms in patients with isolated PDA and in non-PDA patients group without congenital heart disease. METHODS This retrospective case-controlled study was...

Journal: :Genetic testing and molecular biomarkers 2012
Emel Ergul Ali Sazci Ihsan Kara

Attention-deficit/hyperactivity disorder (ADHD) is a common, multifactorial genetic disorder. The aim of the present study was to evaluate a possible association between 5,10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and ADHD. There is evidence to suggest that MTHFR C677T and A1298C polymorphisms alter the function of the enzyme, causing reduced folate and increased homocys...

2015
Danielius Serapinas Klaudija DAUGĖLAITĖ Danielius SERAPINAS

Daugėlaitė K. and D. Serapinas (2015): The importance of mthfr gene mutation detection in patient with recurrent miscarriagesGenetika, Vol 47, No. 2, 609-616. Homocysteine is an enzyme encoded by MTHFR (methylenetetrahydrofolate reductase) gene located on chromosome 1. Mutations in MTHFR gene may result in the afflicted metabolism of homocysteine and thus might increase the risk of recurrent mi...

Journal: :Journal of the National Cancer Institute 2004
Kyoung-Jin Sohn Ruth Croxford Zoe Yates Mark Lucock Young-In Kim

BACKGROUND Although single nucleotide polymorphisms may be potentially important pharmacogenetic determinants of cancer therapy, functional evidence regarding their relevance is currently lacking. The C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with changes in cellular composition of folates. We hypothesized that this polymorphism may modulate the cy...

Journal: :Neurology 2014
Gerarda Cappuccio Carla Cozzolino Giulia Frisso Roberta Romanelli Giancarlo Parenti Alessandra D'Amico Barbara Carotenuto Francesco Salvatore Ennio Del Giudice

Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disease included in the group of homocysteine remethylation disorders. The MTHFR catalyzes the irreversible conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. Besides the well-known association of thrombophilic defects with MTHFR variants and elevated homocysteine, few patients with MTHFR...

Journal: :Journal of the Korean neurological association 2022

Decrease in the activity of methylenetetrahydrofolate reductase (MTHFR) increases level homocysteine. MTHFR C677T gene polymorphism has been reported as a well-known cause elevated homocysteine associated with cerebral venous sinus thrombosis (CVST). A 34-year-old male was admitted severe headache after generalized seizure. Brain magnetic resonance venography showed thrombus superior sagittal s...

Afshin Abdirad, Akbar Oghalaie, Kazem Zendehdel, Mahmoud Eshagh Hossieni, Marjan Mohammadi, Maryam Bababeik, Maryam Esmaili, Mohammad Ali Mohagheghi, Najmeh Karami, Nazanin Mohajerani, Neda Amini, Parisa Hassanpour, Sahar Jahangiri, Samaneh Saberi, Yeganeh Talebkhan,

Background: Attempts for early detection of gastric cancer have recently focused on host's genetic susceptibility factors and gene-environment interactions. We have, herein, studied the association of MTHFR C677T single nucleotide polymorphism (SNP) and its interaction with Helicobacter pylori infection, smoking, age and gender on the risk of gastric cancer among an Iranian population. Methods:...

MH Sheikhha , N Ghasemi , S Soleimanian , SM Kalantar ,

Abstract Background Polymorphism A1298C of the methylenetetrahydrofolate-reductase (MTHFR) gene has been implicated in spontaneous abortion. In this study, we determined the allele and genotype frequencies of this polymorphism in recurrent spontaneous abortion (RSA) and implantation failure after in vitro fertilization (IVF). Materials and Methods We performed a case–control study on 60 wom...

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