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https://www.readbyqxmd.com/read/28760411/polymorphisms-of-mthfr-enos-ace-agt-apoe-pon1-pde4d-and-ischemic-stroke-meta-analysis
#1
Loo Keat Wei, Anthony Au, Saras Menon, Lyn R Griffiths, Cheah Wee Kooi, Looi Irene, Jiangyang Zhao, Chaeyoung Lee, Avdonina Maria Alekseevna, Muhammad Radzi Abdul Hassan, Zariah Abdul Aziz
INTRODUCTION: The association between ischemic stroke and genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR; 677C>T and 1298A>C), endothelial nitric oxide synthase (eNOS; -786T>C, +894G>T, and variable number tandem repeat [VNTR]), phosphodiesterase 4D (PDE4D; SNPs 83 and 87), angiotensin-converting enzyme (ACE) I/D, angiotensinogen (AGT) 235M>T, paraoxonase 1 (PON1) 192Q>R, and apolipoprotein E (ApoE) ε2ε3ε4 remains inconclusive. Therefore, this updated meta-analysis aimed to clarify the presumed influence of genetic polymorphisms on ischemic stroke by meta-analyzing the comprehensive coverage of all individual association studies...
July 28, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28758112/parental-genetic-variants-mthfr-677c-t-and-mtrr-66a-g-associated-differently-with-fetal-congenital-heart-defect
#2
Qian-Nan Guo, Hong-Dan Wang, Li-Zhen Tie, Tao Li, Hai Xiao, Jian-Gang Long, Shi-Xiu Liao
BACKGROUND: Congenital heart defect (CHD) is one of the most common birth defects in the world. The methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes are two of the most important candidate genes for fetal CHD. However, the correlations between the two genes and fetal CHD were inconsistent in various reports. Therefore, this study is aimed to evaluate the parental effects of the two genes on fetal CHD via three genetic polymorphisms, MTHFR 677C>T (rs1801133), MTHFR 1298 A>C (rs1801131), and MTRR 66A>G (rs1801394)...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28607799/major-polymorphisms-of-genes-involved-in-homocysteine-metabolism-in-malaria-patients-in-ouagadougou-burkina-faso
#3
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/28587068/genetic-variants-involved-in-one-carbon-metabolism-polymorphism-frequencies-and-differences-in-homocysteine-concentrations-in-the-folic-acid-fortification-era
#4
Josiane Steluti, Aline M Carvalho, Antonio A F Carioca, Andreia Miranda, Gilka J F Gattás, Regina M Fisberg, Dirce M Marchioni
Folate and other B vitamins are essential co-factors of one-carbon metabolism, and genetic variants, such as polymorphisms, can alter the metabolism. Furthermore, the adoption of food fortification with folic acid showed a decrease of homocysteine concentration. The aim of this study was to investigate the frequencies of the polymorphisms of enzymes and carrier proteins involved in one-carbon metabolism, and to evaluate homocysteine concentrations in the presence of these genetic variants in a population exposed to mandatory food fortification with folic acid...
May 25, 2017: Nutrients
https://www.readbyqxmd.com/read/28578513/the-role-of-fv-1691g-a-fii-20210g-a-mutations-and-mthfr-677c-t-1298a-c-and-103g-t-fxiii-gene-polymorphisms-in-pathogenesis-of-intraventricular-hemorrhage-in-infants-born-before-32-weeks-of-gestation
#5
Dawid Szpecht, Janusz Gadzinowski, Agnieszka Seremak-Mrozikiewicz, Grażyna Kurzawińska, Krzysztof Drews, Marta Szymankiewicz
BACKGROUND: Congenital thrombophilia is associated with an increased intraventricular hemorrhage (IVH) risk among newborns, but it may also play a protective role. The role of genetic polymorphisms involved in the coagulation pathway of IVH pathogenesis is probably a consequence of an increased risk of thrombosis in the fine blood vessels in the germinal matrix region. MATERIAL AND METHODS: The aim of this study was to evaluate the possible relationship between Factor V (FV) 1691G>A, Factor II (FII) 20210G>A mutations and methylenetetrahydrofolate reductase (MTHFR) 677C>T; 1298A>C and Factor XIII (FXIII) 103G>T gene polymorphisms and the occurrence of IVH in 100 infants born from 24 + 0 to 32 + 0 weeks of gestation, born from singleton pregnancy, before 32 + 0 weeks of gestation, exposed to antenatal steroid therapy, and without congenital abnormalities...
July 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28540283/associations-of-mthfr-c677t-polymorphism-with-insulin-resistance-results-of-nurse-study-nursing-unacquainted-related-stress-etiologies
#6
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/28488549/prevalence-of-1691g-a-f5-20210g-a-f2-and-677c-t-mthfr-polymorphisms-in-bosnian-women-with-pregnancy-loss
#7
Emir Mahmutbegovic, Damir Marjanovic, Edin Medjedovic, Nevena Mahmutbegovic, Serkan Dogan, Amina Valjevac, Ewa Czerska, Anna Pawińska-Matecka, Agnieszka Madlani, Grazyna Adler
The relationship between genetic risk factors of thrombophilia and pregnancy loss (PL) is being discussed. The focus has been on F5 1691G>A, F2 20210G>A, and MTHFR 677C>T polymorphisms that may predispose women to microthrombosis during the stages of embryo implantation and placentation. Although, the frequencies of these polymorphisms were reported in different populations, such studies have not yet been performed in Bosnian population. In this study, we determined the prevalence of F5 G>A (rs1801133), F2 G>A (rs1800595) and MTHFR C>T (rs1801020) polymorphisms in Bosnian women...
May 10, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28398708/evidence-of-gene-gene-interactions-between-mthfd1-and-mthfr-in-relation-to-anterior-encephalocele-susceptibility-in-northeast-india
#8
Hemonta Kr Dutta, Debasish Borbora, Mauchumi Baruah, Kanwar Narain
BACKGROUND: Anterior encephalocele (AE) is a rare congenital anomaly of the central nervous system which is thought to be associated with genetic defects in folate metabolism. METHODS: This case-control study investigated the interactions of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-1958G>A (rs2236225) and the methylenetetrahydrofolate reductase (MTHFR) - 677C>T (rs1801133) and 1298A>C (rs1801131) polymorphisms with the risk of AE in the Northeast Indian population...
April 3, 2017: Birth defects research
https://www.readbyqxmd.com/read/28374953/a-duplex-polymerase-chain-reaction-restriction-fragment-length-polymorphism-for-rapid-screening-of-methylenetetrahydrofolate-reductase-gene-variants-genotyping-in-acute-leukemia
#9
Rim Frikha, Nouha Bouayed, Bochra Ben Rhouma, Leila Keskes, Tarek Rebai
BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR; NM_005957.4) is the key enzyme for folate metabolism which plays in DNA biosynthesis and the epigenetic process of DNA methylation. MTHFR gene polymorphisms, the c. 677C>T and c. 1298A>C have been implicated as risk factors for several types of cancers as the acute leukemia. AIM: We have optimized a duplex polymerase chain reaction-restriction fragment length polymorphism assay (PCR-RFLP) for the simultaneous detection of both variants in acute leukemia patients, from Tunisia...
April 4, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28267080/atic-gene-polymorphism-and-histologic-response-to-chemotherapy-in-pediatric-osteosarcoma
#10
Jeong A Park, Hee Young Shin
Accumulating evidence indicates that polymorphisms in folate pathway genes play a role in response to methotrexate (MTX) treatment in various diseases. This study explored the influence of these genetic polymorphisms on treatment outcome in pediatric osteosarcoma. Blood and tissue samples from 48 osteosarcoma patients were obtained, and the following polymorphisms were analyzed; SLC19A1 80G>A, DHFR 829C>T, MTHFR 677C>T, MTHFR 1298A>C, and ATIC 347C>G. We evaluated associations between these candidate gene polymorphisms and treatment outcome, including histologic response and event-free and overall survival, of patients treated with high-dose MTX...
March 6, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28266606/polymorphisms-and-pharmacogenomics-for-the-clinical-efficacy-of-methotrexate-in-patients-with-rheumatoid-arthritis-a-systematic-review-and-meta-analysis
#11
Qi Qiu, Jing Huang, Xiaoming Shu, Huizheng Fan, Youwen Zhou, Cheng Xiao
Methotrexate (MTX) is widely used and considered a first-line disease modifying anti-rheumatic drug (DMARD) for the treatment of rheumatoid arthritis (RA). Many of the relevant genes have been investigated to estimate the association between gene polymorphisms and MTX effectiveness in RA patients, although inconsistent results have been reported. A systematic review and meta-analysis were performed to identify genetic variants associated with MTX efficacy. A total of 30 publications that included 34 genes and 125 SNPs associated with the transporters, enzymes, and metabolites of MTX or the progression of RA were included in the systematic review (SR), and 21 studies were included in 9 meta-analyses...
March 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28231061/role-of-treatment-modifying-mthfr677c-t-and-1298a-c-polymorphisms-in-metformin-treated-puerto-rican-patients-with-type-2-diabetes-mellitus-and-peripheral-neuropathy
#12
Francisco J Jiménez-Ramírez, Liza M Castro, Clarymar Ortiz, Jennifer Concepción, Jessicca Y Renta, Raúl H Morales-Borges, Jorge R Miranda-Massari, Jorge Duconge
BACKGROUND: The study was conducted to investigate potential association between MTHFR genotypes and diabetic peripheral neuropathy (DPN) in Puerto Ricans with type-2 diabetes mellitus (T2DM) treated with metformin. The prevalence of major MTHFR polymorphisms in this cohort was also ascertained. METHODS: DNAs from 89 metformin-treated patients with T2DM and DPN were genotyped using the PCR-based RFLP assay for MTHFR677C>T and 1298A>C polymorphisms. Frequency distributions of these variants in the study cohort were compared to those reported for three reference populations (HapMap project) and controls (400 newborn specimens)...
March 1, 2017: Drug Metabolism and Personalized Therapy
https://www.readbyqxmd.com/read/28188925/impact-of-genetic-polymorphisms-in-key-enzymes-of-homocysteine-metabolism-on-the-pathophysiology-of-sickle-cell-anemia
#13
Danilo Grünig Humberto da Silva, Edis Belini Junior, Lidiane de Souza Torres, Jessika Viviani Okumura, Willian Marcel Barberino, Renan Garcia de Oliveira, Vanessa Urbinatti Teixeira, Clarisse Lopes de Castro Lobo, Eduardo Alves de Almeida, Claudia Regina Bonini-Domingos
This work aimed at studying a possible influence of methylenetetrahydrofolate reductase (MTHFR; c. 677C>T) and cystathionine β-synthase (CBS; 844ins68) polymorphisms on overall oxidative status of sickle cell anemia (SCA) patients and on routine markers, correlating them with hydroxycarbamide (HC) treatment. We evaluated 95 unrelated and diagnosed SCA patients. All patients received a prophylactic treatment with folic acid of 5mg/day, while 41 (43.2%) of them were under hydroxycarbamide (HC) treatment (average dose: 22mg/kg/day)...
February 7, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28161091/associations-between-genetic-variation-in-one-carbon-metabolism-and-leukocyte-dna-methylation-in-valproate-treated-patients-with-epilepsy
#14
Guanzhong Ni, Jiaming Qin, Ziyi Chen, Hongliang Li, Jueqian Zhou, Min Huang, Liemin Zhou
BACKGROUND: Valproate (VPA) as a first-line antiepileptic drug is useful for the most types of epileptic seizure treatment. Previous studies observed that VPA influenced one-carbon metabolism (OCM), consequently, DNA methylation. However, other individual genetic variations, as well as VPA, modify DNA methylation. OBJECTIVE: In this study, we investigated associations between genetic variations in OCM and leukocyte DNA methylation in VPA-treated patients with epilepsy...
January 20, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
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
#15
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 D E 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...
March 1, 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
#16
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
#17
Zhi Tang, Ling Xiao, Ji-Qun Wang, Tao Zhang
BACKGROUND: 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: One hundred 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...
April 2017: 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
#18
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
#19
MULTICENTER STUDY
M Matejcic, J de Batlle, C Ricci, C Biessy, F Perrier, I Huybrechts, E Weiderpass, M C Boutron-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 As 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...
March 15, 2017: 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
#20
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)
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