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MTHFR A1298C

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https://www.readbyqxmd.com/read/27904604/evaluating-the-role-of-maternal-folic-acid-supplementation-in-modifying-the-effects-of-methylenetetrahydrofolate-reductase-c677t-and-a1298c-gene-polymorphisms-in-oral-cleft-children
#1
Asghar Ebadifar, Nazila Ameli, Hamid Reza KhorramKhorshid, Koorosh Kamali, Mehdi Salehi Zeinabadi
BACKGROUND: We studied the role of maternal folic acid supplementation in modifying the effects of methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) gene polymorphisms in Iranian children with oral clefts. MATERIALS AND METHODS: Forty-seven newborn infants with orofacial cleft and their mothers were selected randomly. Mothers were matched regarding dietary folate intake. The genotyping on venous blood was carried out. Consistency between maternal and child genotypes was analyzed...
2016: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
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/27888505/geographical-and-ethnic-distribution-of-mthfr-gene-polymorphisms-and-their-associations-with-diseases-among-chinese-population
#3
REVIEW
Boyi Yang, Shujun Fan, Xueyuan Zhi, Ruilan Xia, Yanxun Wang, Quanmei Zheng, Guifan Sun
Numerous studies have investigated the distribution of methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and their associations with diseases in China. In this study we conducted a systematic review and meta-analysis of these studies (715 eligible studies in total).Results revealed that the frequencies of the MTHFR C677T and A1298C polymorphisms varied markedly in different areas and ethnicities, and even showed geographical gradients. The MTHFR C677T polymorphism was significantly associated with 42 clinical disorders (P<0...
November 26, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27864592/evaluation-of-5-fluorouracil-degradation-rate-and-pharmacogenetic-profiling-to-predict-toxicity-following-adjuvant-capecitabine
#4
Michela Roberto, Adriana Romiti, Andrea Botticelli, Federica Mazzuca, Luana Lionetto, Giovanna Gentile, Ida Paris, Rosa Falcone, Maria Bassanelli, Francesca Romana Di Pietro, Concetta Elisa Onesti, Elisabetta Anselmi, Serena Macrini, Maurizio Simmaco, Paolo Marchetti
BACKGROUND: On account of the lack of predictive biomarkers of toxicity, we investigated whether polymorphisms of genes involved in fluoropyrimidine metabolism and 5-fluorouracil (5-FU) degradation rate were associated with outcomes of adjuvant capecitabine in patients with early stage gastrointestinal cancers. METHODS: Genotyping of DPYD GIVS14A, MTHFR C677T and A1298C SNPs were performed by pyro-sequencing technology. PCR analysis was used for genotyping TYMS-TSER...
November 18, 2016: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/27808369/molecular-thrombophilic-profile-in-mexican-patients-with-idiopathic-recurrent-pregnancy-loss
#5
J J López-Jiménez, Á Porras-Dorantes, C I Juárez-Vázquez, J E García-Ortiz, C A Fuentes-Chávez, I J Lara-Navarro, A R Jaloma-Cruz
Idiopathic recurrent pregnancy loss (IRPL) is defined by three or more consecutive miscarriages occurring before the twentieth week of gestation as a result of unidentified etiological factors. The results of previous studies have indicated that prothrombotic factors play a pathogenic role in early and late pregnancy. This study aimed to identify inherited prothrombotic and hypofibrinolytic risk factors in Mexican-Mestizo patients with IRPL. Fifty-six women with IRPL and 50 control women with at least two full-term pregnancies and no history of RPL were included in this case-control study...
October 5, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27805340/heterozygous-mthfr-a1298c-mutation-causing-cerebral-venous-sinus-thrombosis
#6
Jimil H Shah, Kaustubh D Salagre, Ravindra Nath Sahay, Abhinav Anand
A 21 year college student came with a history of generalized tonic-clonic seizures. MR Venography revealed the presence of left sigmoid and transverse sinus thrombosis with secondary venous hemorrhagic infarcts. After thorough investigation into cause of thrombosis patient was found to have a heterozygous MTHFR A1298C mutation which was causing cerebral venous sinus thrombosis.
November 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27803768/polymorphisms-of-folate-metabolism-genes-in-patients-with-cirrhosis-and-hepatocellular-carcinoma
#7
Nathália Perpétua Peres, Ana Lívia Silva Galbiatti-Dias, Márcia Maria Urbanin Castanhole-Nunes, Renato Ferreira da Silva, Érika Cristina Pavarino, Eny Maria Goloni-Bertollo, Mariangela Torreglosa Ruiz-Cintra
AIM: To evaluated the association of the risk factors and polymorphisms in MTHFR C677T, MTHFR A1298C, MTR A2756G and MTRR A66G genes. METHODS: Patients with cirrhosis (n = 116), hepatocellular carcinoma (HCC) (n = 71) and controls (n = 356) were included. Polymerase chain reaction followed by enzymatic digestion and allelic discrimination technique real-time PCR techniques were used for analysis. MINITAB-14.0 and SNPstats were utilized for statistical analysis. RESULTS: Showed that age ≥ 46 years (OR = 10...
October 18, 2016: World Journal of Hepatology
https://www.readbyqxmd.com/read/27771518/the-effect-of-methylenetetrahydrofolate-reductase-polymorphisms-on-susceptibility-to-human-papilloma-virus-infection-and-cervical-cancer
#8
Mogge Hajiesmaeil, Farzaneh Tafvizi, Soheila Sarmadi
Cervical cancer is the third most common cancer among women worldwide. Several factors lead to cervical cancer, among which human papilloma virus (HPV) infection has a prominent role. Methylenetetrahydrofolate reductase (MTHFR) is crucial in folate metabolic pathway and plays an important role in DNA synthesis and DNA methylation. MTHFR gene polymorphisms, including C677T and A1298C, lead to reduced enzyme activity. This case-control study aims to illustrate the association between MTHFR gene polymorphisms and the risk of cervical cancer...
October 19, 2016: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/27759072/interactions-between-lifestyle-and-mthfr-polymorphisms-on-homocysteine-concentrations-in-young-adults-belonging-to-the-1982-pelotas-birth-cohort
#9
I O Oliveira, L P Silva, M C Borges, O M Cruz, J W Tessmann, J V S Motta, F K Seixas, B L Horta, D P Gigante
BACKGROUND/OBJECTIVES: Homocysteine (Hcy) is a key intermediate in methionine metabolism. A high plasma concentration of Hcy is an independent risk factor for cardiovascular diseases among other determinants. In this study, we aimed to investigate the interactions between methylenetetrahydrofolate reductase enzyme gene (MTHFR) polymorphisms and lifestyle variables (smoking, alcohol intake and physical activity) on Hcy concentrations in a young Brazilian population. SUBJECTS/METHODS: The study population comprised 3803 individuals from the Pelotas Birth Cohort, aged 22-23 years...
October 19, 2016: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/27729560/thrombophilic-gene-mutations-in-relation-to-different-manifestations-of-venous-thromboembolism-a-single-tertiary-center-study
#10
Tahir Bezgin, Cihangir Kaymaz, Özgür Akbal, Fatih Yılmaz, Hacer Ceren Tokgöz, Nihal Özdemir
BACKGROUND: Venous thromboembolism (VTE) is a common and potentially lethal disorder that manifests mainly as deep vein thrombosis (DVT) of the extremities or pulmonary embolism (PE) and occurs as a consequence of genetic and environmental risk factors. We aimed to assess the role of inherited thrombophilia as a causative or additive factor in the development of VTE. METHODS: The study included 310 patients (female: 154; mean age: 52.3 ± 16.9 years) with a first episode of VTE and 289 age- and sex-matched healthy controls...
October 11, 2016: Clinical and Applied Thrombosis/hemostasis
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
#11
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
#12
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
#13
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/27649570/heterogenous-distribution-of-mthfr-gene-variants-among-mestizos-and-diverse-amerindian-groups-from-mexico
#14
Cecilia Contreras-Cubas, Beatríz E Sánchez-Hernández, Humberto García-Ortiz, Angélica Martínez-Hernández, Francisco Barajas-Olmos, Miguel Cid, Elvia C Mendoza-Caamal, Federico Centeno-Cruz, Gabriela Ortiz-Cruz, José Concepción Jiménez-López, Emilio J Córdova, Eva Gabriela Salas-Bautista, Yolanda Saldaña-Alvarez, Juan Carlos Fernández-López, Osvaldo M Mutchinick, Lorena Orozco
Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. Folate deficiency has been related to several conditions, including neural tube defects (NTDs) and cardiovascular diseases. Hence, MTHFR genetic variants have been studied worldwide, particularly the C677T and A1298C. We genotyped the C677T and A1298C MTHFR polymorphisms in Mexican Amerindians (MAs), from the largest sample included in a genetic study (n = 2026, from 62 ethnic groups), and in a geographically-matched Mexican Mestizo population (MEZ, n = 638)...
2016: PloS One
https://www.readbyqxmd.com/read/27583843/analysis-of-genetic-polymorphisms-associated-with-leukoaraiosis-in-the-southern-chinese-population-a-case-control-study
#15
Wen-Qing Huang, Hui-Ming Ye, Fang-Fang Li, Ke-Hui Yi, Ya Zhang, Liang-Liang Cai, Hui-Nuan Lin, Qing Lin, Chi-Meng Tzeng
Leukoaraiosis (LA) is a frequent neuroimaging finding commonly observed on brain MRIs of elderly people with prevalence ranging from 50% to 100%. Multiple susceptibility genes or genetic risk factors for LA have been identified in subjects of European descent. Here, we report the first replication study on several common and novel genetic variations in the Chinese population. In this study, a total of 244 subjects (201 LA patients and 43 controls) were enrolled according to our new and strict definition for LA...
August 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27557140/the-tyms-tser-polymorphism-is-associated-with-toxicity-of-low-dose-capecitabine-in-patients-with-advanced-gastrointestinal-cancer
#16
Adriana Romiti, Michela Roberto, Chiara D'Antonio, Concetta E Onesti, Viola Barucca, Annalisa Milano, Giovanna Gentile, Luana Lionetto, Emanuela Medda, Federica Mazzuca, Andrea Botticelli, Rosa Falcone, Maurizio Simmaco, Paolo Marchetti
Low doses of drugs delivered at close, regular intervals are increasingly being used to manage patients with different neoplasms. Despite the good tolerability, treatment-related adverse events still occur following metronomic protocols. The aim of this study was to retrospectively investigate whether polymorphisms of different genes involved in fluoropyrimidine metabolism and 5-fluorouracil (5-FU) degradation rate were associated with the outcome of a low-dose capecitabine schedule. Genotyping of DPYD IVS14+1 G>A, MTHFR C677T, and A1298C single-nucleotide polymorphisms was performed by pyrosequencing technology...
November 2016: Anti-cancer Drugs
https://www.readbyqxmd.com/read/27498158/pharmacogenetic-predictors-of-toxicity-to-platinum-based-chemotherapy-in-non-small-cell-lung-cancer-patients
#17
Cristina Pérez-Ramírez, Marisa Cañadas-Garre, Ahmed Alnatsha, Eduardo Villar, Juan Ramón Delgado, María José Faus-Dáder, Miguel Ángel Calleja-Hernández
Platinum-based chemotherapy is the standard treatment for NSCLC patients with EGFR wild-type, and as alternative to failure to EGFR inhibitors. However, this treatment is aggressive and most patients experience grade 3-4 toxicities. ERCC1, ERCC2, ERCC5, XRCC1, MDM2, ABCB1, MTHFR, MTR, SLC19A1, IL6 and IL16 gene polymorphisms may contribute to individual variation in toxicity to chemotherapy. The aim of this study was to evaluate the effect of these polymorphisms on platinum-based chemotherapy in NSCLC patients...
September 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/27489588/association-between-methylenetetrahydrofolate-reductase-mthfr-gene-polymorphisms-and-susceptibility-to-childhood-acute-lymphoblastic-leukemia-in-an-iranian-population
#18
Gholamreza Bahari, Mohammad Hashemi, Majid Naderi, Mohsen Taheri
BACKGROUND: The present study was aimed to examine the possible association between methylene tetrahydrofolate reductase (MTHFR) gene polymorphisms and childhood acute lymphoblastic leukemia (ALL) in a sample of Iranian population. SUBJECTS AND METHODS: A total of 220 subjects including 100 children diagnosed with ALL and 120 healthy children participated in the case-control study. The single nucleotide polymorphisms (SNPs) of MTHFR were determined by ARMS-PCR or PCR-RFLP method...
July 1, 2016: International Journal of Hematology-oncology and Stem Cell Research
https://www.readbyqxmd.com/read/27423206/associations-of-methylenetetrahydrofolate-reductase-mthfr-c677t-and-a1298c-polymorphisms-with-genetic-susceptibility-to-rheumatoid-arthritis-a-meta-analysis
#19
Han Cen, Hua Huang, Li-Na Zhang, Li-Ya Liu, Li Zhou, Xia-Fei Xin, Ren-Jie Zhuo
The aim of our study was to conduct a meta-analysis to assess whether combined evidence shows associations between C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and genetic susceptibility to rheumatoid arthritis (RA). A total of 11 articles involving 20 comparisons were included, containing 12 comparisons for the MTHFR C677T polymorphism and 8 comparisons for the MTHFR A1298C polymorphism. Significant evidence was detected for the association of RA susceptibility with the MTHFR C677T polymorphism T allele under allelic contrast and dominant model in Asians (T versus C, OR = 1...
July 16, 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/27384413/maternal-gene-micronutrient-interactions-related-to-one-carbon-metabolism-and-the-risk-of-myelomeningocele-among-offspring
#20
Margaret P Nguyen, Philip J Lupo, Hope Northrup, Alanna C Morrison, Paul T Cirino, Kit Sing Au
BACKGROUND: Few studies have evaluated interactions between maternal genetic variation in 5,10-methylenetetrahydrofolate reductase (MTHFR) and micronutrient intake on the risk of myelomeningocele (MM) in offspring. Therefore, we sought to determine if the role of maternal MTHFR C677T and A1298C on MM risk is altered by maternal intake of micronutrients related to one-carbon metabolism. METHODS: The study consisted of 220 MM case-parent trios recruited from 1996 to 2006...
July 7, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
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