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mthfr c677t heterozygous

Nadia Arabkhazaeli, Kasra Ghanaat, Mohammad Bagher Hashemi-Soteh
BACKGROUND: Recurrent pregnancy loss (RPL) is caused by different factors, including genetics and thrombophilia. Beside Factor V Leiden, another nucleotide change in a factor V (FV) gene (A4070G; His1299Arg) has been identified linking to hereditary thrombophilia. Also, two proposed MTHFR polymorphisms, C677T and A1298C (Glu429A) are linked with RPL. OBJECTIVE: In this study, the effect of two factors, A4070G in FV and A1298C in MTHFR are evaluated in RPL patients from Mazandaran province, Iran...
May 2016: International Journal of Reproductive Biomedicine (Yazd, Iran)
Y Y Chen, B N Wang, X P Yu
The aim of the current study was to explore the correlation between serum homocysteine (HCY) levels and the methylene tetrahydrofolate reductase (MTHFR) gene 677C/T polymorphism and coronary heart disease (CHD). We consecutively enrolled 208 patients with CHD confirmed by CTA or coronary angiography from our hospital. An additional 200 healthy volunteers were enrolled as the control group. Serum HCY levels, MTHFR C677T genotype, and other related indicators were evaluated for the two groups. Compared to those in the control group, the serum HCY levels in the CHD patients were significantly higher (P < 0...
2016: Genetics and Molecular Research: GMR
Hatip Aydin, Murat Gunay, Gokhan Celik, Betul Onal Gunay, Umeyye Taka Aydin, Ali Karaman
BACKGROUND: To assess Factor V Leiden (FVL) (rs6025), Prothrombin G20210A (rs1799963), MTHFR C677T (rs1801133), and MTHFR A1298C (rs1801131) gene mutations as risk factors in the development of retinopathy of prematurity (ROP). MATERIALS AND METHODS: A total of 105 children were included in this cross-sectional study. Patients were divided into two groups. The study group consisted of 55 infants with a history of ROP and the control group comprised 50 healthy infants with term birth...
March 28, 2016: Ophthalmic Genetics
Angélica Ruiz-Franco, Miguel A Barboza, Aurelio Jara-Prado, Samuel Canizales-Quinteros, Paola Leon-Mimila, Nayelli Arguelles-Morales, Juan-Camilo Vargas-González, Alejandro Quiroz-Compean, Antonio Arauz
Spontaneous cervico-cerebral artery dissection (CCAD) is a common condition found among young patients with ischemic stroke. We examined the possible association between the polymorphism of methylenetetrahydrofolate reductase (MTHFR)-C677T and the gene mutation in transforming growth factor beta receptor II (TGFBR2) in a cohort of CCAD patients. One-hundred CCAD cases (65 males; mean age: 38.08 ± 10.68 years) and 100 matching controls were included. Ancestry informative markers (AIMs) were used to increase internal validity of the genetic analysis...
June 2016: Journal of Neurology
Sener Tasdemir, Haktan Bagis Erdem, Ibrahim Sahin, Lutfi Ozel, Gokhan Ozdemir, Recep Eroz, Abdulgani Tatar
An important type of arterial thrombosis, ischemic stroke is associated with increased mortality risk, severe disability and life quality impairment. In this study, we analyzed mean platelet volume, platelet count values and genetic thrombophilia markers of patients who have ischemic stroke history and searched the relationship with genetic predisposition of ischemic strokes and platelet parameters. A retrospective, clinical trial was performed by reviewing the ischemic stroke history (except cryptogenic events) of 599 patients and 100 controls...
June 2016: Neuromolecular Medicine
Andrea Scheuern, Nadine Fischer, Joseph McDonald, Hermine I Brunner, Johannes-Peter Haas, Boris Hügle
BACKGROUND: Methotrexate (MTX) intolerance is a frequent problem of long-term treatment in juvenile idiopathic arthritis (JIA). Mutations in the methylentetrahydrofolate reductase (MTHFR) gene may increase toxicity of MTX, potentially constituting an initial stimulus for this conditioned response. The objective of this study was to investigate the relationship of common MTHFR gene mutations and occurrence of MTX intolerance in pediatric patients with JIA treated with MTX. METHODS: Consecutive JIA patients on at least 3 months of MTX treatment were included in this study...
2016: Pediatric Rheumatology Online Journal
Mona Salah El-Din Hamdy, Aml Soliman Nasr, Manal Mohamed Makhlouf, Zainab Ali El-Saadany, Magy Samir, Dalia Saber Morgan
INTRODUCTION: Hemophilias are a group of related bleeding disorders that show an X-linked pattern of inheritance. The clinical phenotype of severe hemophilia may vary markedly among patients as a result of many factors, including genetic prothrombotic risk factors. OBJECTIVES: Our objective was to study the incidence of the most common prothrombotic risk factors for additive effects among Egyptian patients with hemophilia A and their impact on clinical phenotype; annual bleeding frequency and severity of hemophilic arthropathy, as well as the effect of a single variation in these patients...
April 2016: Molecular Diagnosis & Therapy
Ke Yi, LingYun Yang, Zhu Lan, MingRong Xi
PURPOSE: Methylenetetrahydrofolate reductase (MTHFR) plays an important role in determining the proportions of folate coenzymes for DNA synthesis or DNA methylation. Published data on the association between the MTHFR polymorphisms and cervical risk are controversial. A meta-analysis was performed to assess whether the polymorphisms of MTHFR are associated with cervical cancer risk. METHODS: Medline, Embase, China National Knowledge Infrastructure and Chinese Biomedicine Databases were searched to identify eligible studies...
September 2016: Archives of Gynecology and Obstetrics
Long Chen, Ning Lu, Bai-Hong Zhang, L I Weng, Jun Lu
Current data regarding the association between the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and the risk of developing gastric cancer are insufficient to draw definite conclusions. Therefore, the present meta-analysis was conducted to achieve a more precise estimation of the association. MEDLINE, EMBASE and Wanfang database searches resulted in the identification of 28 eligible studies describing 5,757 cases and 8,501 controls. The strength of the association between the MTHFR C677T polymorphism and gastric cancer risk were evaluated using crude odds ratios (ORs), with 95% confidence intervals (CIs)...
August 2015: Oncology Letters
Yi Yang, Yunyao Luo, Jing Yuan, Yidan Tang, Lang Xiong, MangMang Xu, XuDong Rao, Hao Liu
PURPOSE: Numerous studies have investigated the associations between methylenetetrahydrofolate reductase (MTHFR) gene C677T and A1298C polymorphisms and risk of recurrent pregnancy loss (RPL); however, the results remain controversial. The aim of this study is to drive a more precise estimation of association between MTHFR gene polymorphisms and risk of RPL. METHODS: We searched PubMed, EMBASE, Cochrane library, Web of Science and China Knowledge Resource Integrated Database for papers on MTHFR gene C677T and A1298C polymorphisms and RPL risk...
June 2016: Archives of Gynecology and Obstetrics
Anupama Singh, S Pandey, L K Pandey, Ajit K Saxena
Etiopathology of tumor biology is highly complex and ovarian cancer is one of the important gynaecological neoplasia associated with high risk of mortality rate. Methlenetetrahydrofolate reductase (MTHFR) mutation are commonly linked to folate metabolism with increased risk factor for the development of neural tube defects, recurrent pregnancy loss and development of several type of cancer but genetic interaction between two alleles of MTHFR has been poorly defined in ovarian cancer in India. Hence, present study becomes imperative with the aim to assess the alleles frequency of MTHFR (C677T & A1298C) gene polymorphism using PCR based RFLP analysis...
2015: Journal of Experimental Therapeutics & Oncology
Michal Dubský, Alexandra Jirkovská, Libuše Pagáčová, Robert Bém, Andrea Němcová, Vladimíra Fejfarová, Veronika Wosková, Edward B Jude
The aim of our study was to analyse inherited thrombotic disorders that influence the long-term outcome of PTA. Methods. Diabetic patients with peripheral arterial disease (PAD) treated by PTA in our centre between 2008 and 2011 were included in the study. Patients were divided into unsuccessful PTA group (75 patients), successful PTA group (58 patients), and control group (65 patients, with diabetes but no PAD). Diagnosis of inherited thrombotic disorders included mutation in factor V (Leiden), factor II (prothrombin), and mutation in genes for methylenetetrahydrofolate reductase-MTHFR (C677T and A1298C)...
2015: Journal of Diabetes Research
Won-Cheol Park, Jeong-Hwan Chang
PURPOSE: Hyperhomocysteinemia has been identified as an independent risk factor in arterial and venous thrombosis. Mutations in genes encoding methylenetetrahydrofolate reductase (MTHFR), involved in the metabolism of homocysteine, may account for reduced enzyme activity and elevated plasma homocysteine levels. In this study, we investigated the interrelation of MTHFR C677T genotype and level of homocysteine in patients with arterial and venous thrombosis. MATERIALS AND METHODS: We retrospectively reviewed the medical records of 146 patients who were diagnosed as having arterial and venous thrombosis...
December 2014: Vascular Specialist International
Panayiotis D Ziakas, Loukia S Poulou, Matthaios Pavlou, Elias Zintzaras
Three common polymorphic variants, namely Factor V Leiden (FVL), Prothrombin G20210A (PT G20210A) and Methylenetetrahydrofolate Reductase (MTHFR) C677T are candidate genes for venous thromboembolism (VTE) in pregnancy. We performed a literature review and meta-analysis of pertinent genetic association studies (GAS) in pregnancy, to quantify the genetic risk of VTE in pregnancy. We used the model-free approach of generalized odds ratio (ORG) to estimate gene-to-disease association and explored the mode of inheritance using the degree of dominance h index...
August 2015: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Ian Chang, Carla Guggenheim, Heather Laird-Fick
Background. Disease-modifying antirheumatic drugs (DMARDs), such as methotrexate (MTX), are associated with gastrointestinal toxicity. MTX inhibits dihydrofolate reductase, but it is unclear if polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene predict toxicity. Case. We describe a 33-year-old male with polyarticular rheumatoid arthritis who developed sigmoid diverticular perforation while receiving methotrexate, folic acid, prednisone, and naproxen. He tested heterozygous for the C677T allele MTHFR gene...
2015: Case Reports in Medicine
Qiwei Qi, Hongyan Zhang, Meiying Yu, Xueqian Wang, Zhaohui Wang, Li Xu, Jie Wang, Hongxin Mu
OBJECTIVE: To assess the association of C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene with the susceptibility to polycystic ovary syndrome (PCOS). METHODS: Blood samples of 115 PCOS patients and 58 fertile women (for whom PCOS has been excluded) were collected for DNA extraction. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used for determining the C677T and A1298C polymorphisms. A database has been set up with Epidata and a significance test was performed with a statistical analysis system...
June 2015: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Shu-Jun Fan, Bo-Yi Yang, Xue-Yuan Zhi, Miao He, Da Wang, Yan-Xun Wang, Yi-Nuo Wang, Jian Wei, Quan-Mei Zheng, Gui-Fan Sun
Several studies have examined the associations of methylenetetrahydrofolate reductase (MTHFR) C677T and methionine synthase reductase (MTRR) A66G polymorphisms with being overweight/obesity. However, the results are still controversial. We therefore conducted a case-control study (517 cases and 741 controls) in a Chinese Han population and then performed a meta-analysis by combining previous studies (5431 cases and 24,896 controls). In our case-control study, the MTHFR C677T polymorphism was not significantly associated with being overweight/obesity when examining homozygous codominant, heterozygous codominant, dominant, recessive and allelic genetic models...
2015: International Journal of Molecular Sciences
Bora Gülhan, Betül Tavil, Fatma Gümrük, Tuncay F Aki, Rezan Topaloglu
Vascular complications are important causes of allograft loss in renal transplantation. A two and a half-month-old boy was diagnosed with posterior urethral valve and progressed to end-stage renal disease at eight yr of age. During the HD period, a central venous catheter was replaced three times for repeated thrombosis. The boy was found to be homozygous for FVL and heterozygous for both MTHFR (C677T) and PAI. At the age of 12, renal transplantation was performed from a deceased donor. Postoperative anticoagulation therapy was initiated with continuous intravenous administration of heparin at the dose of 10 IU/kg/h...
August 2015: Pediatric Transplantation
Mehmet İnan, Tansel Sarıoğlu, Tülay Hakkı Serhat
This report aimed to discuss indications for radiological evaluation, laboratory investigation for thrombophilic risk factors, and the duration of anticoagulation therapy in porto-mesenteric venous thrombosis, based on a young patient who presented with acute abdomen and ascites. We investigated the acquired and genetic thrombophilic risk factors and the diagnostic process. Abdominal CT and Doppler US were found to be useful radiological tools in both diagnosis and follow-up of portomesenteric thrombosis. The investigated thrombophilic factors, PT G20210A, MTHFR C677T and MTHFR A1298C, were positive for heterozygous mutations and high levels of lupus anticoagulant and factor VIII were detected...
2013: Ulusal Cerrahi Dergisi
Joseph N Trachtman, Vincent Pagano
We describe a patient who developed symptoms of headache, fatigue, and dizziness after administration of terbinafine (Lamisil). Laboratory tests revealed that he is heterozygous for the C677T variation of the methylenetetrahydrofolate reductase genetic mutation. The prescription of Deplin (L-methylfolate) greatly reduced the symptoms. It was later noted that Lamisil's mechanism of action interferes with cells' methylation cycle, which we suspect compromises cellular function in people with the methylenetetrahydrofolate reductase genetic mutation...
December 2015: Therapeutic Drug Monitoring
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