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https://www.readbyqxmd.com/read/27905104/biomarkers-of-folate-and-vitamin-b12-and-breast-cancer-risk-report-from-the-epic-cohort
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
https://www.readbyqxmd.com/read/27431289/elevated-homocysteine-with-pseudo-homozygosity-for-mthfr677t-as-predisposing-factors-for-transient-ischemic-attacks-a-case-report
#17
A Sobczyńska-Malefora, J Cutler, Y Rahman
A 21 year old male presented with a history of intermittent, transient neurological events. A brain MRI showed an area of restricted diffusion in keeping with an infarct, and an angiogram demonstrated an intracranial stenosis in the internal carotid artery, consistent with atherosclerosis. Laboratory investigations revealed a highly elevated plasma homocysteine, with low plasma folate and 5-methyltetrahydrofolate and methionine at the lower end of the normal ranges. The homocysteine normalized following treatment with folic acid...
October 2016: Metabolic Brain Disease
https://www.readbyqxmd.com/read/27392444/the-incidence-of-severe-intraventricular-hemorrhage-based-on-retrospective-analysis-of-35939-full-term-newborns-report-of-two-cases-and-review-of-literature
#18
Dawid Szpecht, Dagmara Frydryszak, Norbert Miszczyk, Marta Szymankiewicz, Janusz Gadzinowski
INTRODUCTION: Intraventricular hemorrhage (IVH) is mostly documented in premature infants, and the younger the gestational age, the more often it occurs. IVH is very rarely reported in full-term neonates. CASE REPORT: Retrospective analysis was performed in 35939 full-term neonates, who were born in the Clinical Hospital of Gynecology and Obstetrics at the University of Medical Sciences in Poznań. Clinical data were retrieved from their medical records. We report a case series of 2 term newborns, who developed severe IVH grade 3 and 4 with no evidence of asphyxia, neuroinfection, TORCH infections, coagulation disorders and trombocytopenia, metabolic disorders, arteriovenous malformations, and selected genetic abnormalities (factor V Leiden 1601G > A polymorphism and MTHFR 677C > T; 1298A > C polymorphisms)...
December 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27387868/mthfr-c-677c-t-is-a-risk-factor-for-non-syndromic-cleft-lip-with-or-without-cleft-palate-in-chile
#19
C Ramírez-Chau, R Blanco, A Colombo, R Pardo, J Suazo
OBJECTIVE: The functional variant within the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene c.677C>T, producing alterations in folate metabolism, has been associated with the risk of non-syndromic cleft lip with or without cleft palate (NSCL/P). We assessed this association in a Chilean population using a combined analysis of case-control and case-parent trio samples. SUBJECTS AND METHODS: Samples of 165 cases and 291 controls and 121 case-parent trios (sharing the cases) were genotyped...
October 2016: Oral Diseases
https://www.readbyqxmd.com/read/27379466/the-effect-of-parental-5-10-methylenetetrahydrofolate-reductase-677c-t-and-1298a-c-gene-polymorphisms-on-response-to-single-dose-methotrexate-in-tubal-ectopic-pregnancy
#20
Mehmet Serdar Kutuk, Aslı Subasioglu, Semih Uludag, Nazife Tascioglu, Mahmut Tuncay Ozgun, Munis Dundar
OBJECT: The aim of this study was to assess the effect of parental 5, 10-methylenetetrahydrofolate reductase (MTFHR) gene polymorphisms (677C/T, and 1298A/C) on response to single dose methotrexate (MTX) treatment in tubal ectopic pregnancy. MATERIAL AND METHODS: In this prospective cohort study, cases with unruptured tubal ectopic pregnancies (TEP) were grouped into two according to their response to single dose methotrexate treatment (Group1, responsive, n: 88; Group 2, unresponsive, n: 21)...
July 5, 2016: Journal of Maternal-fetal & Neonatal Medicine
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