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MTHFR mutation C677T

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https://www.readbyqxmd.com/read/28430351/c677t-and-a1298c-polymorphisms-of-methylene-tetrahydrofolate-reductase-in-non-hodgkin-lymphoma-southeast-iran
#1
Mohammad Ali Mashhadi, Ebrahim Miri-Moghaddam, Narges Arbabi, Ali Bazi, Zahra Heidari, Zahra Sepehri, Azra Karimkoshte, Alireza Rezvan, Seyed Mahdi Hashemi
PURPOSE: Polymorphisms of the methylene tetrahydrofolate reductase (MTHFR) gene have been reported as risk factors for non-Hodgkin lymphoma (NHL) in some populations. Our goal was to evaluate the potential role of A1298C and C677T polymorphisms of MTHFR in risk of NHL in southeast Iran. METHODS: In the present case-control study, 127 patients with newly diagnosed NHL along with 150 ethnicity- and age-matched controls were examined. The A1298C and C677T polymorphisms were genotyped using the Tetra Amplification Refractory Mutation System polymerase chain reaction method...
April 14, 2017: Tumori
https://www.readbyqxmd.com/read/28397480/genetic-polymorphism-of-mthfr-c677t-influences-susceptibility-to-hbv-related-hepatocellular-carcinoma-in-a-chinese-population-a-case-control-study
#2
Kunyan Qiao, Shitian Zhang, Congdoanh Trieu, Qinghai Dai, Zhixiao Huo, Yanan Du, Wei Lu, Wei Hou
BACKGROUND: Methylene tetrahydrofolate reductase (MTHFR) is the key enzyme of folic acid metabolism and the C677T mutation is associated with decreased enzyme activity. Several studies have shown its regulatory role in carcinogenesis and tumor growth. HBV (hepatitis B virus)-related HCC (hepatocellular carcinoma) is one of the most common liver cancers worldwide. Therefore, the present case-control study aimed to investigate the role of genetic polymorphism of MTHFR C677T in the development and progression of HBV-related HCC in a Chinese population...
April 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28397471/interactions-of-methylenetetrahydrofolate-reductase-gene-polymorphisms-folate-and-homocysteine-on-blood-pressure-in-a-chinese-hypertensive-population
#3
Wen-Xing Li, Peng Liao, Chao-Yue Hu, Fei Cheng, Tao Zhang, Yuan-Yuan Sun, Ling Tang, Man-Man Wang, Kui-Sheng Liu, Dahai Liu, Fang Liu
BACKGROUND: High blood pressure is related to cardiovascular diseases. We aimed to explore the interactions of methylenetetrahydrofolate reductase (MTHTR) gene C677T and A1298C mutations and folate/homocysteine (Hcy) status on blood pressure in a Chinese hypertensive population. METHODS: The clinical data in the present study derived from a previous trial (NCT00520247). Genotypes in Hcy pathway enzymes were detected by PCR-RFLP methods. Supine blood pressure was measured with a mercury sphygmomanometer...
April 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28341195/methylenetetrahydrofolate-reductase-mthfr-c677t-and-a1298c-polymorphisms-and-vascular-complications-in-patients-with-type-2-diabetes
#4
Najiba Fekih-Mrissa, Meriem Mrad, Hazard Ibrahim, Imen Akremi, Aicha Sayeh, Amel Jaidane, Haroun Ouertani, Borni Zidi, Nasreddine Gritli
OBJECTIVES: To assess whether 2 polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C, are risk factors for vascular complications in Tunisian patients with type 2 diabetes mellitus. METHODS: The MTHFR polymorphisms were genotyped, and plasma homocysteine levels were evaluated in 160 Tunisian patients with type 2 diabetes mellitus. RESULTS: Prevalence of the 2 heterozygous polymorphisms of the thermolabile MTHFR gene (CT and AC) was encountered more commonly in patients with diabetes mellitus than in the healthy controls (p<10(-3))...
March 21, 2017: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/28296649/a-nomogram-to-predict-5-fluorouracil-toxicity-when-pharmacogenomics-meets-the-patient
#5
Andrea Botticelli, Concetta E Onesti, Lidia Strigari, Mario Occhipinti, Francesca R Di Pietro, Bruna Cerbelli, Antonella Petremolo, Elisabetta Anselmi, Serena Macrini, Michela Roberto, Rosa Falcone, Luana Lionetto, Marina Borro, Annalisa Milano, Giovanna Gentile, Maurizio Simmaco, Paolo Marchetti, Federica Mazzuca
Fluoropyrimidines combined with other agents are commonly used for gastrointestinal cancer treatment. Considering that severe toxicities occur in 30% of patients, we aimed to structure a nomogram to predict toxicity, based on metabolic parameter and patients' characteristics. We retrospectively enrolled patients affected by gastrointestinal tract cancers. Pretreatment 5-fluorouracil (5-FU) degradation rate and DPYD, TSER, MTHFR A1298T, and C677T gene polymorphisms were characterized. Data on toxicities were collected according to CTCAE v3...
June 2017: Anti-cancer Drugs
https://www.readbyqxmd.com/read/28283826/genetic-polymorphism-of-mthfr-c677t-with-preterm-birth-and-low-birth-weight-susceptibility-a-meta-analysis
#6
Han Wu, Ping Zhu, Xingyi Geng, Zhong Liu, Liangliang Cui, Zhongchun Gao, Baofa Jiang, Liping Yang
PURPOSE: This study aimed at clarifying the association of maternal and neonatal methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with preterm birth (PTB) and low birth weight (LBW) susceptibility, respectively. MATERIALS AND METHODS: A systematic search of Embase, Medline, China Biological Medicine Database (CBM), Chinese National Knowledge Infrastructure (CNKI), and Wanfang Database was performed before June, 2016. The frequencies of maternal and neonatal MTHFR C677T genotypes in the cases and controls and other information were extracted by two independent investigators...
March 10, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28181217/hypercoagulability-and-migraine
#7
Gretchen E Tietjen, Stuart A Collins
BACKGROUND: A growing body of literature suggests that migraineurs, particularly those with aura, have an increased risk for ischemic stroke, but not via enhanced atherosclerosis. The theory that micro-emboli induced ischemia provokes cortical spreading depression (ie, symptomatic aura) in migraineurs but transient ischemic attacks in others highlights a potential role for hypercoagulability as a link between migraine (with aura) and stroke. AIM: Our objective is to summarize the literature evaluating the association of migraine with various acquired or inheritable thrombophilic states, including those related to elevated estrogen levels, endothelial activation and dysfunction, antiphospholipid antibodies (aPL), deficiency of coagulation inhibitors, and presence of certain genetic polymorphisms...
February 9, 2017: Headache
https://www.readbyqxmd.com/read/28149369/the-effect-of-the-mthfr-c677t-mutation-on-athletic-performance-and-the-homocysteine-level-of-soccer-players-and-sedentary-individuals
#8
Nurten Dinç, Selda Bereket Yücel, Fatma Taneli, Metin Vehbi Sayın
This study investigated athletic performance and homocysteine (Hcy) levels in relation to the methylenetetrahydrofolate reductase (MTHFR) C677T mutation and explored the relationship between this mutation and other cardiac risk factors in soccer players and sedentary individuals. The study groups consisted of randomly selected soccer players (n=48) from the Turkish Super and Major League and sedentary male students (n=48) aged 18-27. Anthropometric variables, aerobic and anaerobic thresholds were measured, furthermore, biochemical assays were performed...
June 1, 2016: Journal of Human Kinetics
https://www.readbyqxmd.com/read/28149021/prevalence-of-factor-v-leiden-g1691a-and-mthfr-c677t-thrombosis-gene-modifier-in-iron-deficiency-anemia-a-pathophysiological-effect-in-indian-isolates
#9
S K Pandey, S Pandey, R M Mishra, M Indurkar
Normal iron levels are required to prevent thrombocytosis by inhibiting thrombopoiesis. Thrombocytosis is usually associated with a mild iron deficiency and is the result of a lack of inhibition of thrombopoiesis. Study participants were 430 iron deficiency anemia (IDA) patients. Ten (10) mL of venous blood were collected for the subjects. Ferritin analysis was done by ELISA method while Hemogram analysis was done by auto-analyzer. Factor V Leiden, PRTG20210A, and MTHFR C677T genotype analysis was performed by PCR-RFLP method...
March 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28028860/possible-association-between-germline-methylenetetrahydrofolate-reductase-gene-polymorphisms-and-psoriasis-risk-in-a-turkish-population
#10
S Kilic, O Ozdemir, F Silan, S Isik, O Yildiz, D Karaagacli, C Silan, Z Ogretmen
BACKGROUND: Psoriasis is a common chronic inflammatory skin disease caused by genetic and epigenetic factors. There are conflicting results in the literature about the association between psoriasis and the methylenetetrahydrofolate reductase gene (MTHFR), ranging from strong linkage to no association. AIM: To investigate the association between the germline MTHFR polymorphisms C677T and A1298C with psoriasis risk in a Turkish population. METHODS: The study enrolled 84 patients with psoriasis and 212 healthy controls (HCs) without any history of psoriasis...
January 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/27933413/investigation-on-genetic-thrombophilic-factors-in-ffpe-autopsy-tissue-from-subjects-who-died-from-pulmonary-embolism
#11
Francesco Brandimarti, Federica Alessandrini, Mauro Pesaresi, Chiara Catalani, Letizia De Angelis, Roberta Galeazzi, Simona Giovagnetti, Rosaria Gesuita, Elisa Righi, Raffaele Giorgetti, Adriano Tagliabracci
Venous thromboembolism (VTE) is a multifactorial disease determined by a combination of inherited and acquired factors. Inherited factors include mutations in the genes coding for coagulation factors, some of which seem to exert a differential influence on the risk of developing deep vein thrombosis (DVT) and pulmonary embolism (PE). In post-mortem studies of subjects who have died from pulmonary embolism (PE), the analysis of the factors that may have augmented the VTE risk is often limited to acquired factors...
March 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/27845948/5-fluorouracil-degradation-rate-could-predict-toxicity-in-stages-ii-iii-colorectal-cancer-patients-undergoing-adjuvant-folfox
#12
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...
March 2017: Anti-cancer Drugs
https://www.readbyqxmd.com/read/27805237/the-role-of-genetics-in-coronary-artery-bypass-surgery-patients-under-30-years-of-age
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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...
February 2017: Molecular Nutrition & Food Research
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