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MTHFR mutation C677T

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https://www.readbyqxmd.com/read/27845948/5-fluorouracil-degradation-rate-could-predict-toxicity-in-stages-ii-iii-colorectal-cancer-patients-undergoing-adjuvant-folfox
#1
Concetta E Onesti, Andrea Botticelli, Marco La Torre, Marina Borro, Giovanna Gentile, Adriana Romiti, Luana Lionetto, Antonella Petremolo, Mario Occhipinti, Michela Roberto, Rosa Falcone, Maurizio Simmaco, Paolo Marchetti, Federica Mazzuca
5-Fluorouracil is commonly used for gastrointestinal cancer treatment in an adjuvant setting; however, the toxicity can lead to a reduction, delay, or discontinuation of treatment. We retrospectively investigated the association between the 5-fluorouracil degradation rate (5-FUDR) and genetic polymorphisms of TSER, DPYD, and MHTFR with toxicity in colorectal cancer patients treated with adjuvant FOLFOX. Pretreatment 5-FUDR and MTHFR A1298T or C677T, TSER, and DPYD gene polymorphisms were characterized in stages II-III colorectal cancer patients...
November 11, 2016: Anti-cancer Drugs
https://www.readbyqxmd.com/read/27805237/the-role-of-genetics-in-coronary-artery-bypass-surgery-patients-under-30-years-of-age
#2
Sabit Sarikaya, Ebuzer Aydin, Yucel Ozen, Tanil Ozer, Kaan Kirali, Murat Bulent Rabus
AIM: We undertook genetic assessment of coronary artery disease (CAD) in 20 patients aged 30 years or less undergoing coronary artery bypass grafting (CABG) surgery, to investigate the prognostic value of pre-defined genes. METHODS: Twenty patients, who underwent CABG surgery between December 2001 and May 2013, were retrospectively analysed to find out the role their genetic make-up played in their disease. We used three genetic diagnostic tests, the plasminogen activator inhibitor (PAI) -1 gene, the A1/A2 polymorphism of glycoprotein IIIa (GpIIIa) gene, and common polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene...
October 21, 2016: Cardiovascular Journal of Africa
https://www.readbyqxmd.com/read/27734511/review-article-the-aetiology-of-primary-budd-chiari-syndrome-differences-between-the-west-and-china
#3
REVIEW
X Qi, G Han, X Guo, V De Stefano, K Xu, Z Lu, H Xu, A Mancuso, W Zhang, X Han, D C Valla, D Fan
BACKGROUND: China may have the largest number of Budd-Chiari syndrome (BCS) cases in the world (at least 1914 original papers were published, and at least 20 191 BCS patients were reported). Considering the discrepancy in the clinical profiles and preferred treatment selection of primary BCS between the West and China, understanding its aetiology in these two different regions is very important. AIM: To review the data from large cohort studies and meta-analyses to illustrate the epidemiology of risk factors for BCS in the West and China...
December 2016: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/27725412/folate-deficiency-was-associated-with-increased-alanine-aminotransferase-and-glutamyl-transpeptidase-concentrations-in-a-chinese-hypertensive-population-a-cross-sectional-study
#4
Wen-Xing Li, Wei Li, Jia-Qian Cao, Haiyue Yan, Yuanyuan Sun, Hong Zhang, Qiang Zhang, Ling Tang, Manman Wang, Jing-Fei Huang, Dahai Liu
Alanine aminotransferase (ALT), aspartate transaminase (AST), and glutamyl transpeptidase (GGT) were three key enzymes in the hepatic metabolism. This study aimed to investigate the effect of homocysteine (Hcy) metabolism gene polymorphisms and serum Hcy and folate level on the hepatic functions in a Chinese hypertensive population. A representative sample with 480 subjects aged 28-75 was enrolled in 2005.9-2005.12 from six hospitals in different Chinese regions. Serum ALT, AST and GGT were measured by using an automatic biochemistry analyzer...
2016: Journal of Nutritional Science and Vitaminology
https://www.readbyqxmd.com/read/27706773/relationship-between-genetic-polymorphisms-of-methylenetetrahydrofolate-reductase-and-breast-cancer-chemotherapy-response
#5
L Yang, X W Wang, L P Zhu, H L Wang, B Wang, T Wu, Q Zhao, D L X T JinSiHan, X Y Wang
Activity of methylenetetrahydrofolate reductase (MTHFR), an enzyme involved in folate metabolism, is influenced by mutations in the corresponding gene, contributing to a decrease in 5,10-MTHF. Due to such polymorphisms, individuals differ in MTHFR enzyme activity and plasma folate levels. We investigated the relationship between two common MTHFR polymorphisms (C677T and A1298C) and breast cancer (BC) chemotherapy response. From February 2013 to January 2016, 148 advanced BC patients at the Center Hospital of Cangzhou were enrolled and treated with six different chemotherapy regimens...
September 23, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27686649/association-of-mycobacterium-infections-in-patients-with-mendelian-susceptibility-to-mycobacterial-disease-with-venous-thromboembolism
#6
Maryam Alinejad Dizaj, Seyed Alireza Mahdaviani, Payam Tabarsi, Hamed Ahari, Ahmad Ebrahimi, Seyed Alireza Nadji, Habib Emami, Esmaeil Mortaz
An association between a hypercoagulable state and Mendelian susceptibility to mycobacterial disease (MSMD) has been established in a few studies; resultant thrombosis is considered rare. In a case-control study, the prevalence of factor V Leiden, prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C mutations were investigated in mycobacterium-infected patients. The study comprised 30 patients with mycobacterial infections (invasive, disseminated and/or recurrent infections with Bacille Calmette-Guerin or non-tuberculosis mycobacteria and Mycobacterium Tuberculosis with positive results for acid-fast bacilli and tuberculin skin tests) and 30 normal healthy controls...
October 2016: Microbiology and Immunology
https://www.readbyqxmd.com/read/27588178/association-of-c677t-mthfr-and-g20210a-fii-prothrombin-polymorphisms-with-susceptibility-to-myocardial-infarction
#7
Wiam Hmimech, Hind Hassani Idrissi, Brehima Diakite, Dalila Baghdadi, Farah Korchi, Rachida Habbal, Sellama Nadifi
Myocardial infarction (MI) is a common complex pathology, localized in the main leading causes of mortality worldwide. It is the result of the interaction of genetic and environmental factors. The aim of the present study was to investigate the potential association of C677T 5,10-methylenetetrahydrofolate reductase (MTHFR) (rs1801133) and G20210A factor II prothrombin (FII) (rs1799963) polymorphisms with the susceptibility of MI. Following extraction by the standard salting-out procedure, DNA samples of 100 MI patients and 182 apparently healthy controls were genotyped by polymerase chain reaction-restriction fragment length polymorphism using HinfI and HindIII restriction enzymes, respectively...
September 2016: Biomedical Reports
https://www.readbyqxmd.com/read/27525841/association-between-the-thrombophilic-polymorphisms-mthfr-c677t-factor-v-leiden-and-prothrombin-g20210a-and-recurrent-miscarriage-in-brazilian-women
#8
R O Gonçalves, L R Fraga, W V B Santos, A F L Carvalho, B A V Veloso Cerqueira, M Sarno, M B P Toralles, M J Vieira, C G Dutra, L Schüler-Faccini, M T V Sanseverino, M S Gonçalves, F S L Vianna, O L N Costa
Some cases of recurrent first trimester miscarriage have a thrombotic etiology. The aim of this study was to investigate the prevalence of the most common thrombophilic mutations - factor V (FV) Leiden G1691A (FVL), prothrombin (FII) G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T - in women with recurrent miscarriages. In this case-control study, we included 137 women with two or more consecutive first-trimester miscarriages (£12 weeks of gestation) and 100 healthy women with no history of pregnancy loss, and with at least one living child...
July 15, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27515258/influence-of-food-groups-on-plasma-total-homocysteine-for-specific-mthfr-c677t-genotypes-in-chinese-population
#9
Qiang Zeng, Fan Li, Tianyuan Xiang, Weimin Wang, Cong Ma, Chao Yang, Haixu Chen, Hang Xiang
SCOPE: It has been demonstrated that a mutation of MTHFR C677T increases plasma total homocysteine (Hcy) concentration and decreases folate. Natural foods can improve Hcy levels, but the effect of certain foods remains undetermined. The aim of this study was to investigate the association between food groups and Hcy, and to explore the correlations between Hcy and dietary folate/vitamin (Vit) B12 for genotype-specific population. METHODS AND RESULTS: A total of 4507 adults were enrolled in this study, all of whom underwent physical examinations and genotyping...
August 12, 2016: Molecular Nutrition & Food Research
https://www.readbyqxmd.com/read/27223647/which-are-the-most-common-thrombophilic-genetic-nucleotide-polymorphisms-in-infertile-women-undergoing-an-ivf-cycle
#10
Ferdinando Antonio Gulino, Stella Capriglione, Marta Fauzia, Luisa Maria Di Gregorio, Alessandra Di Stefano, Giulia Musmeci, Roberto Angioli, Marco Antonio Palumbo
INTRODUCTION: Thrombophilia is considered one of the causes of infertility, especially after repeated failures of IVF techniques. The aim of this work is to evaluate the incidence of thrombophilia in women who underwent IVF cycles and assess the outcome of the techniques. METHODS: In vivo study. The study sample was composed of 262 women undergoing a fresh cycle of in vitro fertilization (IVF) cycle of Intracytoplasmatic Sperm Injection (ICSI) from July 2012 to December 2014 in the Center of Physiopathology of Human Reproduction...
May 25, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27216921/association-between-in-vitro-fertilization-outcomes-and-inherited-thrombophilias-a-meta-analysis
#11
Xiaofang Tan, Zhenbo Yu, Jun Sao, Li Chen, Ya Shen, Jiayi Ding, Weihong Shi
PURPOSE: The aim of this study was to determine whether in vitro fertilization (IVF) outcomes are associated with inherited thrombophilias. METHODS: Several databases including PubMed, Embase, and Cochrane Library were retrieved up to 12 January 2016. The quality of the included studies was assessed by two authors. The associations of the following mutations in inherited thrombophilias and IVF outcomes were explored: factor V Leiden (FVL), prothrombin gene G20210A mutation (PGM), 5,10-methylentetrahydrofolate reductase (MTHFR) C677T, MTHFR (A1298C) and activated protein C resistance (APCR)...
August 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27179578/methylenotetrahydrololate-reductase-a1298c-and-c677t-polymorphisms-and-adverse-pregnancy-outcome-in-women-with-pcos
#12
Monika Szafarowska, Agnieszka Segiet, Malgorzata M Jerzak
OBJECTIVES: The aim of this study was to compare SNP C677T and A1298C in the MTHFR gene and pregnancy outcome in PCOS women. STUDY DESIGN: We investigated 76 PCOS and 56 non-PCOS women. Among PCOS patients 63 were women with a history of recurrent pregnancy loss (RPL) and 13 women were infertile. In non-PCOS group 40 women were RPL and 16 were infertile. We investigated the relationship between SNP in the MTHFR gene and pregnancy loss, homocysteine and AMH concentration in the study groups...
2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/27131585/factor-v-leiden-prothrombin-g20210a-and-methylene-tetrahydrofolate-reductase-mutations-and-stillbirth-the-stillbirth-collaborative-research-network
#13
Robert M Silver, George R Saade, Vanessa Thorsten, Corette B Parker, Uma M Reddy, Carey Drews-Botsch, Deborah Conway, Donald Coustan, Donald J Dudley, Radek Bukowski, Carol J Rowland Hogue, Halit Pinar, Michael W Varner, Robert Goldenberg, Marian Willinger
BACKGROUND: An evaluation for heritable thrombophilias is recommended in the evaluation of stillbirth. However, the association between thrombophilias and stillbirth remains uncertain. OBJECTIVE: We sought to assess the association between maternal and fetal/placental heritable thrombophilias and stillbirth in a population-based, case-control study in a geographically, racially, and ethnically diverse population. STUDY DESIGN: We conducted secondary analysis of data from the Stillbirth Collaborative Research Network, a population-based case-control study of stillbirth...
October 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27130656/mthfr-addressing-genetic-counseling-dilemmas-using-evidence-based-literature
#14
REVIEW
Brooke Levenseller Levin, Elizabeth Varga
The 5, 10 methylenetetrahydrofolate reductase (MTHFR) enzyme is a catalyst in the folate metabolism pathway, the byproducts of which are involved in the remethylation of homocysteine to methionine. Methionine is a precursor for a major DNA methyl donor and is important for DNA methylation and gene regulation. Rare mutations in the MTHFR gene have been associated with autosomal recessive MTHFR deficiency leading to homocystinuria. In addition, two polymorphic variants in this gene (C677T and A1298C) have been implicated in a mild form of MTHFR deficiency associated with hyperhomocysteinemia...
October 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27128842/associations-between-methylenetetrahydrofolate-reductase-mthfr-polymorphisms-and-non-alcoholic-fatty-liver-disease-nafld-risk-a-meta-analysis
#15
Man-Yi Sun, Li Zhang, Song-Li Shi, Jing-Na Lin
BACKGROUND: C677T and A1298C are the most common allelic variants of Methylenetetrahydrofolate Reductase (MTHFR) gene. The association between MTHFR polymorphisms and the occurrence of non-alcoholic fatty liver disease (NAFLD) remains controversial. This study was thus performed to examine whether MTHFR mutations are associated with the susceptibility to NAFLD. METHODS: A first meta-analysis on the association between the MTHFR polymorphisms and NAFLD risks was carried out via Review Manager 5...
2016: PloS One
https://www.readbyqxmd.com/read/27089387/geographical-and-ethnic-distributions-of-the-mthfr-c677t-a1298c-and-mtrr-a66g-gene-polymorphisms-in-chinese-populations-a-meta-analysis
#16
Xingmin Wang, Jinjian Fu, Qianxi Li, Dingyuan Zeng
BACKGROUND: The geographical and ethnic distributions of the polymorphic methylenetetrahydrofolate reductase (MTHFR) mutations (C677T and A1298C) and methionine synthase reductase (MTRR) mutation (A66G) remain heterogeneous in China. The goal of this study was to estimate the pooled frequencies of the alleles and associated genotypes of these gene polymorphisms among healthy populations in Mainland China. OBJECTIVE AND METHODS: We systematically reviewed published epidemiological studies on the distributions of 3 genetic variants in Chinese healthy populations living in Mainland China through a meta-analysis...
2016: PloS One
https://www.readbyqxmd.com/read/27018927/evaluation-of-factor-v-leiden-prothrombin-g20210a-mthfr-c677t-and-mthfr-a1298c-gene-polymorphisms-in-retinopathy-of-prematurity-in-a-turkish-cohort
#17
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
https://www.readbyqxmd.com/read/27017713/migraine-carotid-stiffness-and-genetic-polymorphism
#18
COMPARATIVE STUDY
Vanja Basić Kes, Miljenka-Jelena Jurasić, Iris Zavoreo, Lejla Corić, Kresimir Rotim
Recently migraine has been associated with increased arterial stiffness, procoagulant state, increased incidence of cerebral white matter lesions (WML) and stroke. Our aim was to compare the characteristics of migraineurs to headache free controls regarding their functional carotid ultrasound parameters. Sixty patients (45 women) with migraine (mean age 40.42 ± 10.61 years) were compared with 45 controls (30 women) with no prior history of repeating headache (mean age 38.94 ± 5.46 years) using E-tracking software on Alpha 10 ultrasound platform...
December 2015: Acta Clinica Croatica
https://www.readbyqxmd.com/read/27017342/tgfbr2-mutation-and-mthfr-c677t-polymorphism-in-a-mexican-mestizo-population-with-cervico-cerebral-artery-dissection
#19
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
https://www.readbyqxmd.com/read/26990189/evaluation-of-high-resolution-melting-for-mthfr-c677t-genotyping-in-congenital-heart-disease
#20
Ying Wang, Haiyan Zhang, Shuying Yue, Kun Zhang, Hui Wang, Rui Dong, Xiaomeng Yang, Yi Liu, Yanhui Ma
BACKGROUND: High resolution melting (HRM) is a simple, flexible and low-cost mutation screening technique. The methylenetetrahydrofolate reductase (MTHFR) gene encoding a critical enzyme, potentially affects susceptibility to some congenital defects like congenital heart disease (CHD). We evaluate the performance of HRM for genotyping of the MTHFR gene C677T locus in CHD cases and healthy controls of Chinese Han population. METHODS: A total of 315 blood samples from 147 CHD patients (male72, female 75) and 168 healthy controls (male 92, female 76) were enrolled in the study...
2016: PloS One
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