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MTHFR C677T

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https://www.readbyqxmd.com/read/28627828/the-relationship-between-the-mthfr-c677t-genotypes-to-serum-anti-m%C3%A3-llerian-hormone-concentrations-and-in-vitro-fertilization-intracytoplasmic-sperm-injection-outcome
#1
Seyedeh Z Shahrokhi, Faranak Kazerouni, Firouzeh Ghaffari, Ali Rahimipour, Mir D Omrani, Arezoo Arabipoor, Ramin Lak, Elaheh T Ghane
BACKGROUND: The expression of the 5,10-methylentetrahydrofolate reductase (MTHFR) gene in human oocytes and preimplantation embryos suggests that the MTHFR gene is involved in folliculogenesis and female reproduction. Considering the importance of the MTHFR gene on female reproduction, the aim of this study was to evalu- ate the influence of MTHFR C677T polymorphism on ovarian marker reserve, particularly serum anti-Müllerian hormone (AMH) levels, and ovarian response as well as clinical pregnancy rates after in vitro fertilization (IVF)/ intracytoplasmic sperm injection (ICSI)...
May 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28607799/major-polymorphisms-of-genes-involved-in-homocysteine-metabolism-in-malaria-patients-in-ouagadougou-burkina-faso
#2
Noé Yameogo, Bapio Valérie Elvira Jean Télesphore Bazie, Abdoul Karim Ouattara, Pouiré Yameogo, Tegwinde Rebeca Compaore, Dorcas Obiri-Yeboah, Florencia Wenkuuni Djigma, Simplice Damintoti Karou, Jacques Simpore
This study analyzed the four main polymorphisms of the genes in homocysteine metabolism in malaria patients. Forty-two randomly selected subjects, diagnosed positive for Plasmodium falciparum, were included. The four genotypes were detected by real-time PCR using the MTHFR 677C>T, MTHFR 1298A>C, MTR 2756A>G, and MTRR 66A>G detection kit (Sacace Biotechnologies REF: T01002-96-S). The results revealed frequencies of 90% 677CC, 10% 677CT, and 00% 677TT for MTHFR C677T; 78.6% 1298AA, 19% 1298AC, and 2...
2017: Malaria Research and Treatment
https://www.readbyqxmd.com/read/28603947/thrombophilic-gene-polymorphisms-and-recurrent-pregnancy-loss-in-greek-women
#3
M Chatzidimitriou, D Chatzidimitriou, M Mavridou, C Anetakis, F Chatzopoulou, T Lialiaris, S Mitka
INTRODUCTION: Recurrent pregnancy loss (RPL) is a multifactorial disorder. The aim of this study was the detection of various genetic polymorphisms and their correlation to RPL, in Greek women. METHODS: The impact of 12 thrombophilic polymorphisms was evaluated, among 48 Greek women with a history of RPL, vs 27 healthy parous women. Multiplex PCR and in situ hybridization on nitrocellulose films were performed, to investigate 12 genetic polymorphisms previously reported as risk factors for RPL...
June 12, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28598562/genetic-polymorphisms-and-folate-status
#4
REVIEW
Mami Hiraoka, Yasuo Kagawa
Moderate hyperhomocysteinemia-induced low folate status is an independent risk factor for cardiovascular disease, dementia, and depression. Folate is an essential cofactor in the one-carbon metabolism pathway and is necessary in amino acid metabolism, purine and thymidylate synthesis, and DNA methylation. In the folate cycle and homocysteine metabolism, folate, vitamin B12, vitamin B6, and vitamin B2 are important cofactors. Many enzymes are involved in folate transport and uptake, the folate pathway, and homocysteine (Hcy) metabolism, and various polymorphisms have been documented in these enzymes...
June 9, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28592186/the-role-of-the-mthfr-c677t-polymorphism-in-methotrexate-induced-toxicity-in-pediatric-osteosarcoma-patients
#5
Loes Lambrecht, Charlotte Sleurs, Veerle Labarque, Catharina Dhooge, Annouschka Laenen, Friedl Sinnaeve, Marleen Renard, Anne Uyttebroeck
AIM: Osteosarcoma patients receive high doses of methotrexate (MTX). However, pharmacogenetic information remains limited and has mainly been investigated in leukemia so far. PATIENTS & METHODS: We investigated the link between the MTHFR C677T genotype, toxicity levels (mucositis, MTX plasma level, hematological toxicity and hepatotoxicity) and survival of 48 pediatric osteosarcoma patients. RESULTS: The TT genotype did not show more toxicity compared with the CC/CT genotype...
June 8, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28591039/genetic-polymorphism-of-methylenetetrahydrofolate-reductase-as-a-potential-risk-factor-for-congenital-heart-disease-a-meta-analysis-in-chinese-pediatric-population
#6
Ye Yuan, Xia Yu, Fenglan Niu, Na Lu
BACKGROUND: A meta-analysis of polymorphism C677T (rs1801133) of the methylene tetrahydrofolate reductase (MTHFR) gene as a potential risk factor for congenital heart disease (CHD) in Chinese paediatric population was studied in view of the previously reported controversial results. METHODS: We searched literature including PubMed, Embase, Cochrane Library, CNKI, Wanfang, and VIP databases that resulted in the identification of a total of 21 separate studies with 6414 subjects that met the inclusion criteria in the Chinese population...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28574380/mthfr-gene-c677t-polymorphism-and-levels-of-dna-methyltrasferases-in-subclinical-hypothyroidism
#7
T Kvaratskhelia, E Kvaratskhelia, K Kankava, E Abzianidze
The aim of our study was to investigate the link between MTHFR gene C677T polymorphism and DNMTs levels in patients with Subclinical Hypothyroidism (SCH). In this study 19 adult patients with subclinical hypothyroidism and 19 healthy controls (mean age 31±5.5 and 33±5.1 years respectively) were recruited. All patients were diagnosed based on serum levels of TSH, FT4, anti-TG and anti-TPO antibodies. Written informed consents were obtained from all study subjects. Genomic DNA was extracted using Quick-DNA Universal Kit (Zymo Research, USA)...
April 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28556887/comt-val158met-and-mthfr-c677t-moderate-risk-of-schizophrenia-in-response-to-childhood-adversity
#8
J-C Debost, M Debost, J Grove, O Mors, D M Hougaard, A D Børglum, P B Mortensen, L Petersen
OBJECTIVE: Mesolimbic dopamine sensitization has been hypothesized to be a mediating factor of childhood adversity (CA) on schizophrenia risk. Activity of catechol-O-methyltransferase (COMT) Val158Met increases mesolimbic dopamine signaling and may be further regulated by methylenetetrahydrofolate reductase (MTHFR) C677T. This study investigates the three-way interaction between CA, COMT, and MTHFR. METHODS: We conducted a nested case-control study on individuals born after 1981, linking population-based registers to study the three-way interaction...
May 29, 2017: Acta Psychiatrica Scandinavica
https://www.readbyqxmd.com/read/28550262/increased-plasma-homocysteine-level-is%C3%A2-associated-with-executive-dysfunction-in%C3%A2-type-2-diabetic-patients-with-mild-cognitive-impairment
#9
Sai Tian, Jing Han, Rong Huang, Jie Sun, Rongrong Cai, Yanjue Shen, Shaohua Wang
BACKGROUND: Homocysteine (Hcy) is involved in the pathogenesis of type 2 diabetes mellitus (T2DM) and Alzheimer's disease. OBJECTIVE: We aimed to investigate the role of Hcy in T2DM patients with mild cognitive impairment (MCI), and to determine whether methylene tetrahydrofolate reductase (MTHFR) C677T or cystathionine beta-synthase (CBS) 844ins68 polymorphism is related to T2DM-associated MCI. METHODS: We recruited 285 T2DM patients and divided them into two groups, 140 patients with MCI, and 145 healthy-cognition controls, on the basis of Montreal Cognitive Assessment (MoCA) scores...
May 25, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28543752/mthfr-gene-c677t-and-a1298c-variants-are-associated-with-fmf-risk-in-a-turkish-cohort
#10
Ayse Feyda Nursal, Süheyla Kaya, Ozlem Sezer, Nevin Karakus, Serbulent Yigit
BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme in homocysteine (Hcy) metabolism. We aimed to evaluate a possible relationship between MTHFR gene C677T (rs 1801133), A1298C (rs 1801131) variants and susceptibility to FMF in a Turkish cohort. MATERIAL-METHODS: This case-control study included 198 Turkish FMF patients and 100 healthy subjects as controls. MTHFR C677T and A1298C were analyzed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) methods...
May 22, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28540283/associations-of-mthfr-c677t-polymorphism-with-insulin-resistance-results-of-nurse-study-nursing-unacquainted-related-stress-etiologies
#11
Motahareh Kheradmand, Zhila Maghbooli, Sedigheh Salemi, Mahnaz Sanjari
BACKGROUND: The insulin resistance syndrome is one of the major contributors of metabolic syndrome, diabetes Type 2 and atherosclerotic cardiovascular disease. A common mutation (677C to T; Ala to Val) in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with decreased specific MTHFR activity and elevation of the homocysteine. The aim of this study is investigation of association between MTHFR 677C > T polymorphism with insulin resistance by using HOMA (Homeostasis Model Assessment) index in nurses who are potentially prone to develop insulin resistance because of unfavorable effects of shift work...
2017: Journal of Diabetes and Metabolic Disorders
https://www.readbyqxmd.com/read/28537481/investigation-of-methylenetetrahydrofolate-reductase-c677t-polymorphism-and-human-papilloma-virus-genotypes-in-iranian-breast-cancer
#12
Hanieh Rezaei, Hossein Rassi, Fahimeh Nemati Mansur
Breast cancer (BC) is the leading cause of death among Iranian women. Development of BC is a multistep process, arising from genetic changes such as methylenetetrahydrofolate reductase (MTHFR) polymorphism and infection with human papillomavirus (HPV). In this study, we investigated HPV genotypes associated with BCs and its relation with MTHFR C677T polymorphism for early detection of familial BCs. A total of 84 archival BC samples from Iran were collected. Verification of each cancer reported in a relative was sought through the pathology reports of the hospital records...
June 2017: Monoclonal Antibodies in Immunodiagnosis and Immunotherapy
https://www.readbyqxmd.com/read/28481466/investigation-of-mthfr-gene-c677t-polymorphism-in-cardiac%C3%A2-syndrome-x-patients
#13
Cemre Kandaz, Burak Önal, Deniz Özen, Bülent Demir, A Gökhan Akkan, Sibel Özyazgan
BACKGROUND: Definition of Cardiac Syndrome X (CSX) refers to groups of patients with positive exercise stress test and normal epicardial coronary arteries on coronary angiography accompanied by chest pain. Although the etiology of CSX is not completely understood, there is a common consensus that its pathophysiology may be associated with endothelial dysfunction resulting in impaired coronary flow. Some polymorphisms observed on the MTHFR gene cause inactivation of the MTHFR enzyme, leading to hyperhomocysteinemia and homocysteinuria, which are prominent risk factors of cardiovascular and cerebrovascular diseases...
May 8, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28480858/-analysis-of-one-carbon-metabolism-genes-and-epidermal-differentiation-complex-in-patients-with-ichthyosis-vulgaris
#14
O Fedota, L Roshchenyuk, I Sadovnychenko, I Merenkova, I Gontar, V Vorontsov
The aim of the study was to evaluate the effects of allelic polymorphism of the FLG and MTHFR genes and their associations in gynecological patients with ichthyosis vulgaris. Gynecological disorders are observed in presence of some forms of ichtyosis. From the prospective of improving nation's healthcare, the greatest attention is drawn to reproductive disorders. Based on this, the research was also tasked with studying of the genetic nature of gynecological diseases, as well as the influence of geographical latitude on the frequencies of mutagenic alleles of the FLG gene and heterogeneous carriers of these mutations...
March 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28463405/studying-the-association-between-methylenetetrahydrofolate-reductase-mthfr-677-gene-polymorphism-cardiovascular-risk-and-lichen-planus
#15
Laila Rashed, Rania Abdel Hay, Marwa AlKaffas, Shereen Ali, Dina Kadry, Sara Abdallah
BACKGROUND: There is a reported relation between hyperhomocysteinemia and lichen planus (LP). An increase in homocysteine (Hcy) and the risk of cardiovascular disease (CVD) in patients with methylenetetrahydrofolate reductase (MTHFR) mutation has been described. OBJECTIVE: To detect MTHFR (C677T) gene polymorphism, and to find its association with CVD risk, Hcy and folic acid levels in patients with LP. METHODS: This hospital-based case-control study included 110 patients with LP: 70 with cutaneous LP (CLP) and 40 with oral LP (OLP)...
April 30, 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/28440964/effect-of-b9-and-b12-vitamin-intake-on-semen-parameters-and-fertility-of-men-with-mthfr-polymorphisms
#16
R Najafipour, S Moghbelinejad, A Aleyasin, A Jalilvand
The methylenetetrahydrofolate reductase (MTHFR) gene codes a crucial enzyme which involve in folate metabolism. The effect of MTHFR gene polymorphisms on male fertility status is uncertain and controversial. We evaluated the effect of B vitamin family intake on total homocysteine content and semen parameters of men with MTHFR gene polymorphisms. MTHFR genotypes frequency and serum total homocysteine concentration were measured among 280 men with impaired spermatogenesis (asthenospermia, oligospermia, severe oligospermia and azoospermia) and 85 control participants...
April 25, 2017: Andrology
https://www.readbyqxmd.com/read/28436623/mthfr-methylation-moderates-the-impact-of-smoking-on-dna-methylation-at-ahrr-for-african-american-young-adults
#17
Steven R H Beach, Man Kit Lei, Mei Ling Ong, Gene H Brody, Meeshanthini V Dogan, Robert A Philibert
Smoking has been shown to have a large, reliable, and rapid effect on demethylation of AHRR, particularly at cg05575921, suggesting that methylation may be used as an index of cigarette consumption. Because the availability of methyl donors may also influence the degree of demethylation in response to smoking, factors that affect the activity of methylene tetrahydrofolate reductase (MTHFR), a key regulator of methyl group availability, may be of interest. In the current investigation, we examined the extent to which individual differences in methylation of MTHFR moderated the association between smoking and demethylation at cg05575921 as well as at other loci on AHRR associated with a main effect of smoking...
April 24, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28435933/the-c677t-variant-in-mthfr-modulates-associations-between-brain-integrity-mood-and-cognitive-functioning-in-old-age
#18
Florence F Roussotte, Xue Hua, Katherine L Narr, Gary W Small, Paul M Thompson
INTRODUCTION: The C677T functional variant in the methylene-tetrahydrofolate reductase (MTHFR) gene leads to reduced enzymatic activity and elevated blood levels of homocysteine. Hyperhomocysteinemia has been linked with higher rates of cardiovascular diseases, cognitive decline, and late-life depression. METHODS AND MATERIALS: Here, 3D magnetic resonance imaging data was analyzed from 738 individuals (age: 75.5 ± 6.8 years; 438 men/300 women) including 173 Alzheimer's patients, 359 subjects with mild cognitive impairment, and 206 healthy older adults, scanned as part of the Alzheimer's Disease Neuroimaging Initiative (ADNI)...
April 2017: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
https://www.readbyqxmd.com/read/28430351/c677t-and-a1298c-polymorphisms-of-methylene-tetrahydrofolate-reductase-in-non-hodgkin-lymphoma-southeast-iran
#19
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/28409162/synergistic-effect-of-the-mthfr-c677t-and-ephx2-g860a-polymorphism-on-the-increased-risk-of-ischemic-stroke-in-chinese-type-2-diabetic-patients
#20
Liang Ma, Yongwei Jiang, Xiaomu Kong, Meihua Yan, Tingting Zhao, Hailing Zhao, Qian Liu, Haojun Zhang, Yongtong Cao, Ping Li
The aim of this study was to investigate the relationship between the combined effect of MTHFR C677T (rs1801133) and EPHX2 G860A (rs751141) polymorphism and ischemic stroke in Chinese T2DM patients. This case-control study included a total of 626 Chinese T2DM patients (236 T2DM patients with ischemic stroke and 390 T2DM patients without ischemic stroke). The rs1801133 and rs751141 were genotyped using real-time polymerase chain reaction. Statistical analysis was performed with SPSS 17.0. Results showed that the combined effect of MTHFR TT and EPHX2 GG or GA + AA genotype has a higher risk of ischemic stroke compared with the control group (combined effect of MTHFR CC and EPHX2 GA + AA genotypes; OR = 3...
2017: Journal of Diabetes Research
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