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https://www.readbyqxmd.com/read/28069796/high-dietary-folate-in-pregnant-mice-leads-to-pseudo-mthfr-deficiency-and-altered-methyl-metabolism-with-embryonic-growth-delay-and-short-term-memory-impairment-in-offspring
#1
Renata H Bahous, Nafisa M Jadavji, Liyuan Deng, Marta Cosín-Tomás, Jessica Lu, Olga Malysheva, Kit-Yi Leung, Ming-Kai Ho, Mercè Pallàs, Perla Kaliman, Nicholas DE Greene, Barry J Bedell, Marie A Caudill, Rima Rozen
Methylenetetrahydrofolate reductase (MTHFR) generates methyltetrahydrofolate for methylation reactions. Severe MTHFR deficiency results in homocystinuria and neurologic impairment. Mild MTHFR deficiency (677C>T polymorphism) increases risk for complex traits, including neuropsychiatric disorders. Although low dietary folate impacts brain development, recent concerns have focused on high folate intake following food fortification and increased vitamin use. Our goal was to determine whether high dietary folate during pregnancy affects brain development in murine offspring...
January 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28044213/polymorphisms-of-mthfr-c677t-and-a1298c-associated-with-survival-in-patients-with-colorectal-cancer-treated-with-5-fluorouracil-based-chemotherapy
#2
Chih-Ching Yeh, Ching-Yu Lai, Shih-Ni Chang, Ling-Ling Hsieh, Reiping Tang, Fung-Chang Sung, Yi-Kuei Lin
BACKGROUND: This study examined the association between methylenetetrahydrofolate reductase (MTHFR) polymorphisms and survival of patients with colorectal cancer (CRC) treated with 5-fluorouracil (5-FU)-based chemotherapy in Taiwan. METHODS: We genotyped MTHFR polymorphisms C677T (rs1801133) and A1298C (rs1801131) for 498 CRC patients treated with 5-FU-based chemotherapy after receiving surgery. Survival analyses on MTHFR polymorphisms were performed using log-rank test and Kaplan-Meier curve...
January 2, 2017: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/27973469/analysis-of-metabolism-related-indicators-and-mthfr-gene-polymorphism-in-patients-with-h-type-hypertension
#3
Zhi Tang, Ling Xiao, Ji Q Wang, Tao Zhang
OBJECTIVE: This study aims to analyze the polymorphism of the methylene tetrahydrofolate reductase (MTHFR) gene in patients with hypertension, and explore the correlation between H-type hypertension and metabolic biochemical indicators such as homocysteine (Hcy). METHODS: 100 patients with H-type hypertension and 100 patients with common hypertension were selected as the study subjects. Plasma Hcy and blood lipids, blood glucose, and other biochemical indicators were detected in the two groups...
December 14, 2016: Minerva Medica
https://www.readbyqxmd.com/read/27936032/the-rfc1-80g-a-among-common-one-carbon-polymorphisms-relates-to-survival-rate-according-to-dna-global-methylation-in-primary-liver-cancers
#4
Sara Moruzzi, Silvia Udali, Andrea Ruzzenente, Alfredo Guglielmi, Patrizia Guarini, Nicola Martinelli, Simone Conci, Filippo Mazzi, Patrizia Pattini, Stephanie A Tammen, Oliviero Olivieri, Francesca Pizzolo, Sang-Woon Choi, Simonetta Friso
Polymorphisms within one-carbon metabolism genes have been largely studied in relation to cancer risk for the function of this pathway in nucleotide synthesis and DNA methylation. Aims of this study were to explore the possible link among several common functional gene polymorphisms within one-carbon metabolism and survival rate in primary liver cancers, i.e., hepatocellular carcinoma and cholangiocarcinoma, and to assess the additional effect of global DNA methylation on survival rate and mortality risk. Forty-seven primary liver cancer patients were genotyped for ten polymorphisms: DHFR 19bp ins/del, TS 2rpt-3rpt, MTHFD1 1958G>A, MTHFR 677C>T, MTR 2756A>G, MTRR 66A>G, RFC1 80G>A, SHMT1 1420C>T, BHMT 716 A>G, TC II 776C>G...
2016: PloS One
https://www.readbyqxmd.com/read/27905104/biomarkers-of-folate-and-vitamin-b12-and-breast-cancer-risk-report-from-the-epic-cohort
#5
M Matejcic, J de Batlle, C Ricci, C Biessy, F Perrier, I Huybrechts, E Weiderpass, Boutron-Mc Ruault, C Cadeau, M His, D G Cox, H Boeing, R T Fortner, R Kaaks, P Lagiou, A Trichopoulou, V Benetou, R Tumino, S Panico, S Sieri, D Palli, F Ricceri, H B Bueno-de-Mesquita, G Skeie, P Amiano, M J Sánchez, M D Chirlaque, A Barricarte, J R Quirós, G Buckland, C H van Gils, P H Peeters, T J Key, E Riboli, B Gylling, A Zeleniuch-Jacquotte, M J Gunter, I Romieu, V Chajès
Epidemiological studies have reported inconsistent findings for the association between B vitamins and breast cancer (BC) risk. We investigated the relationship between biomarkers of folate and vitamin B12 and the risk of BC in the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort. Plasma concentrations of folate and vitamin B12 were determined in 2,491 BC cases individually matched to 2,521 controls among women who provided baseline blood samples. Multivariable logistic regression models were used to estimate odds ratios by quartiles of either plasma B vitamin...
December 1, 2016: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27902594/combined-genotype-and-haplotype-distributions-of-mthfr-c677t-and-a1298c-polymorphisms-a-cross-sectional-descriptive-study-of-13-473-chinese-adult-women
#6
Shujun Fan, Boyi Yang, Xueyuan Zhi, Yanxun Wang, Quanmei Zheng, Guifan Sun
Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms are, independently and/or in combination, associated with many disorders. However, data on the combined genotype and haplotype distributions of the 2 polymorphisms in Chinese population were limited.We recruited 13,473 adult women from 9 Chinese provinces, collected buccal cell samples, and determined genotypes, to estimate the combined genotype and haplotype distributions of the MTHFR C677T and A1298C polymorphisms.In the total sample, the 6 common combined genotypes were CT/AA (29...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27881965/fundamental-role-of-methylenetetrahydrofolate-reductase-677-c%C3%A2-%C3%A2-%C3%A2-t-genotype-and-flavin-compounds-in-biochemical-phenotypes-for-schizophrenia-and-schizoaffective-psychosis
#7
Stephanie Fryar-Williams
The Mental Health Biomarker Project (2010-2016) explored variables for psychosis in schizophrenia and schizoaffective disorder. Blood samples from 67, highly characterized symptomatic cases and 67 gender and age matched control participants were analyzed for methyl tetrahydrofolate reductase (MTHFR) 677C → T gene variants and for vitamin B6, B12 and D, folate, unbound copper, zinc cofactors for enzymes in the methylation cycle, and related catecholamine pathways. Urine samples were analyzed for indole-catecholamines, their metabolites, and oxidative-stress marker, hydroxylpyrolline-2-one (HPL)...
2016: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/27845713/novel-approaches-to-investigate-one-carbon-metabolism-and-related-b-vitamins-in-blood-pressure
#8
REVIEW
Amy McMahon, Helene McNulty, Catherine F Hughes, J J Strain, Mary Ward
Hypertension, a major risk factor for heart disease and stroke, is the world's leading cause of preventable, premature death. A common polymorphism (677C→T) in the gene encoding the folate metabolizing enzyme methylenetetrahydrofolate reductase (MTHFR) is associated with increased blood pressure, and there is accumulating evidence demonstrating that this phenotype can be modulated, specifically in individuals with the MTHFR 677TT genotype, by the B-vitamin riboflavin, an essential co-factor for MTHFR. The underlying mechanism that links this polymorphism, and the related gene-nutrient interaction, with hypertension is currently unknown...
November 11, 2016: Nutrients
https://www.readbyqxmd.com/read/27819322/mthfr-c-677c-t-inhibits-cell-proliferation-and-decreases-prostate-cancer-susceptibility-in-the-han-chinese-population-in-shanghai
#9
Jun-Long Wu, Shu-Xian Zhou, Rui Zhao, Xuan Zhang, Kun Chang, Cheng-Yuan Gu, Hua-Lei Gan, Bo Dai, Yao Zhu, Hai-Liang Zhang, Guo-Hai Shi, Yuan-Yuan Qu, Jian-Yuan Zhao, Ding-Wei Ye
Methylenetetrahydrofolate reductase (MTHFR) c.677C>T and c.1298A>C variants were known to be associated with prostate cancer (PCa) risk with conflicting results, because of MTHFR and nutrient status interaction in the prostate development. In this large-scale, hospital-based, case-control study of 1817 PCa cases and 2026 cancer-free controls, we aimed to clarify the association between these two MTHFR variants and PCa risk in Shanghai and to explore the underlying molecular mechanisms. We found that both the heterozygous CT (adjusted OR = 0...
November 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27783703/the-impact-of-methylenetetrahydrofolate-reductase-c677t-polymorphism-on-patients-undergoing-allogeneic-hematopoietic-stem-cell-transplantation-with-methotrexate-prophylaxis
#10
Ja Min Byun, Hea-Lim Kim, Dong-Yeop Shin, Youngil Koh, Sung-Soo Yoon, Moon-Woo Seong, Sung Sup Park, Jin Hee Kim, Yun-Gyoo Lee, Inho Kim
Pharmacogenomics can explain the inter-individual differences in response to drugs, including methotrexate (MTX) used for acute graft-versus-host disease (aGVHD) prophylaxis during hematopoietic stem cell transplantation (HSCT). In real-world practice, preplanned MTX dose is arbitrarily modified according to observed toxicity which can lead to unexpected and severe aGVHD development. We aimed to validate the influence of MTHFR C677T polymorphism on the outcomes of allogenic HSCT in a relatively under-represented homogenous Asian population...
2016: PloS One
https://www.readbyqxmd.com/read/27781293/methotrexate-elimination-and-toxicity-mthfr-677c-t-polymorphism-in-patients-with-primary-cns-lymphoma-treated-with-high-dose-methotrexate
#11
Yun Jung Choi, Hyangmin Park, Ji Sung Lee, Ju-Yeon Lee, Shin Kim, Tae Won Kim, Jung Sun Park, Jeong Eun Kim, Dok Hyun Yoon, Cheolwon Suh
The genetic association of the methylenetetrahydrofolate reductase gene (MTHFR) 677C>T polymorphism with methotrexate (MTX)-associated toxicity has been evaluated and conflicting results have been reported. The substantial heterogeneity of the studied population was suggested to be a possible explanation because ethnicity, MTX dose, coadministered chemotherapeutic agents, and folinate rescue dosage regimen could alter the MTX toxicity profile. The patient population was homogenized by limiting the cancer type to primary central nervous system lymphoma and chemotherapy protocol to a high-dose MTX monotherapy regimen...
October 25, 2016: Hematological Oncology
https://www.readbyqxmd.com/read/27720779/riboflavin-mthfr-genotype-and-blood-pressure-a-personalized-approach-to-prevention-and-treatment-of-hypertension
#12
REVIEW
Helene McNulty, J J Strain, Catherine F Hughes, Mary Ward
Hypertension is the leading risk factor contributing to mortality worldwide, primarily from cardiovascular disease (CVD), while effective treatment of hypertension is proven to reduce CVD events. Along with the well recognized nutrition and lifestyle determinants, genetic factors are implicated in the development and progression of hypertension. In recent years genome-wide association studies have identified a region near the gene encoding the folate-metabolizing enzyme methylenetetrahydrofolate reductase (MTHFR) among eight loci associated with blood pressure...
October 6, 2016: Molecular Aspects of Medicine
https://www.readbyqxmd.com/read/27708721/the-impact-of-mthfr-677c%C3%A2-%C3%A2-%C3%A2-t-risk-knowledge-on-changes-in-folate-intake-findings-from-the-food4me-study
#13
Clare B O'Donovan, Marianne C Walsh, Hannah Forster, Clara Woolhead, Carlos Celis-Morales, Rosalind Fallaize, Anna L Macready, Cyril F M Marsaux, Santiago Navas-Carretero, Rodrigo San-Cristobal, Silvia Kolossa, Christina Mavrogianni, Christina P Lambrinou, George Moschonis, Magdalena Godlewska, Agnieszka Surwillo, Jildau Bouwman, Keith Grimaldi, Iwona Traczyk, Christian A Drevon, Hannelore Daniel, Yannis Manios, J Alfredo Martinez, Wim H M Saris, Julie A Lovegrove, John C Mathers, Michael J Gibney, Lorraine Brennan, Eileen R Gibney
BACKGROUND: It is hypothesised that individuals with knowledge of their genetic risk are more likely to make health-promoting dietary and lifestyle changes. The present study aims to test this hypothesis using data from the Food4Me study. This was a 6-month Internet-based randomised controlled trial conducted across seven centres in Europe where individuals received either general healthy eating advice or varying levels of personalised nutrition advice. Participants who received genotype-based personalised advice were informed whether they had the risk (CT/TT) (n = 178) or non-risk (CC) (n = 141) alleles of the methylenetetrahydrofolate reductase (MTHFR) gene in relation to cardiovascular health and the importance of a sufficient intake of folate...
2016: Genes & Nutrition
https://www.readbyqxmd.com/read/27686649/association-of-mycobacterium-infections-in-patients-with-mendelian-susceptibility-to-mycobacterial-disease-with-venous-thromboembolism
#14
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/27629735/the-apoe-e4-allele-confers-increased-risk-of-ischemic-stroke-among-greek-carriers
#15
Christopher Konialis, Konstantinos Spengos, Panagiotis Iliopoulos, Sophia Karapanou, Elias Gialafos, Birgitta Hagnefelt, Konstantinos Vemmos, Nikolaos Zakopoulos, Constantinos Pangalos
BACKGROUND: Although several studies in various countries have indicated that the presence of the E4 allele of the apolipoprotein-E (APOE) gene is a risk factor for ischemic cerebrovascular disease, the strength of this association still remains a matter of debate. OBJECTIVES: The aim of the study was to determine the frequency of the APOE E4 allele and various other gene polymorphisms in in a well-characterized sample of Greek patients and to evaluate the potential associations with the risk of ischemic stroke (IS) and coronary heart disease (CHD)...
May 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/27613114/genetic-causes-of-parkinson-s-disease-in-the-maltese-a-study-of-selected-mutations-in-lrrk2-mthfr-qdpr-and-spr
#16
Charmaine Zahra, Christine Tabone, Graziella Camilleri, Alex E Felice, Rosienne Farrugia, Stephanie Bezzina Wettinger
BACKGROUND: Mutations in Leucine-rich repeat kinase 2 NM_198578 (LRRK2 c.6055G > A (p.G2019S), LRRK2 c.4321C > G (p.R1441G)) and alpha-synuclein NM_000345 (SNCA c.209G > A (p.A53T)) genes causing Parkinson's disease (PD) are common in Mediterranean populations. Variants in the Quinoid Dihydropteridine Reductase NM_000320 (QDPR c.68G > A (p.G23D)), Sepiapterin Reductase NM_003124 (SPR c.596-2A > G) and Methylenetetrahydrofolate Reductase NM_005957 (MTHFR c...
2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27560137/genetic-variation-of-methylenetetrahydrofolate-reductase-mthfr-and-thymidylate-synthase-ts-genes-is-associated-with-idiopathic-recurrent-implantation-failure
#17
Youngsok Choi, Jung Oh Kim, Sung Han Shim, Yubin Lee, Ji Hyang Kim, Young Joo Jeon, Jung Jae Ko, Woo Sik Lee, Nam Keun Kim
The one-carbon metabolism pathway disorder was important role in successful pregnancy. The MTHFR and TS protein were crucial factor in one-carbon metabolism. To investigate the association between recurrent implantation failure (RIF) and enzymes in the one-carbon metabolism pathway. A total of 120 women diagnosed with RIF and 125 control subjects were genotyped for MTHFR 677C>T, 1298A>C, TSER 2R/3R and TS 1494del/ins by a polymerase chain reaction-restriction fragment length polymorphism assay. According to the gene-gene combination analysis, the MTHFR 677/MTHFR 1298 (TT/AA) and MTHFR 677/TS 1494 (TT/6bp6bp) genetic combinations were associated with relatively higher risks [adjusted odds ratio (AOR), 2...
2016: PloS One
https://www.readbyqxmd.com/read/27517946/a-meta-analysis-of-association-between-methylenetetrahydrofolate-reductase-gene-mthfr-677c-t-polymorphism-and-diabetic-retinopathy
#18
Shasha Luo, Furu Wang, Chao Shi, Zhifeng Wu
AIMS: To shed light on the conflicting findings of the association between the methylenetetrahydrofolate reductase gene (MTHFR) 677C/T polymorphism and the risk of diabetic retinopathy (DR), a meta-analysis was conducted. METHODS: A predefined search was performed on 1747 DR cases and 3146 controls from 18 published studies by searching electronic databases and reference lists of relevant articles. A random-effects or fixed-effects model was used to estimate the sizes of overall and stratification effects of the MTHFR 677C/T polymorphism on the risk of DR, as appropriate...
2016: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/27511516/evaluation-of-maternal-serum-folate-vitamin-b12-and-homocysteine-levels-andfactor-v-leiden-factor-ii-g-20210g-a-and-mthfr-variations-in-prenatallydiagnosed-neural-tube-defects
#19
Hatip Aydin, Resul Arisoy, Ali Karaman, Emre Erdoğdu, Arda Çetinkaya, Bilge B Geçkinli, Hasan Şimşek, Oya Demirci
BACKGROUND/AIM: Neural tube defects (NTDs) are common congenital malformations that develop as a result of interactions between several genes and environmental factors. Many factors have been investigated in order to understand the etiology of NTDs, and many studies have identified folate intake as a common contributing factor. The exact etiology of the disease is still unknown. MATERIALS AND METHODS: In this study, we compared serum folate, vitamin B12, and homocysteine levels, along with common thrombophilia-related genetic variations, including factor V Leiden, factor II g...
2016: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/27446285/risk-factors-for-symptomatic-osteonecrosis-in-childhood-all-a-retrospective-study-of-a-slovenian-pediatric-all-population-between-1970-and-2004
#20
Nataša Karas-Kuželički, Simona Mencej-Bedrač, Janez Jazbec, Janja Marc, Irena Mlinarič-Raščan
Treatment induced non-traumatic osteonecrosis (ON) has been reported increasingly in children treated for acute lymphoblastic leukemia (ALL). Several risk factors for ON have been identified in childhood cancer patients; however, their diagnostic and prognostic power is limited and the etiology of the disease remains unclear. Therefore, a continuous effort is focused on the identification of additional ON risk factors. We performed a retrospective study of 313 childhood ALL patients to test the association between the ON occurrence in children receiving ALL therapy and common polymorphisms in potential target genes: Thiopurine S-methyltransferase (TPMT; 460G>A, 719A>G), 5,10-methylenetetrahydrofolate reductase (MTHFR; 677C>T, 1298A>C), estrogen receptor alpha 1 (ESR1; XbaI) and collagen type I, α1 (COL1A1; Sp1)...
August 2016: Experimental and Therapeutic Medicine
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