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MTHFR A1298C

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https://www.readbyqxmd.com/read/29227003/association-between-end-stage-diabetic-nephropathy-and-mthfr-c677t-and-a1298c-gene-polymorphisms
#1
Gnanasambandan Ramanathan, Bollimpalli Harichandana, Suresh Kannan, Ramprasad Elumalai, Solomon Paul
AIM: Methylenetetrahydrofolate reductase (MTHFR) is a regulatory enzyme of homocysteine metabolism. The C677T and A1298C polymorphism of the MTHFR gene has been reported to be associated with elevated plasma homocysteine in patients with Diabetic nephropathy. This study aimed to investigate the influence of the C677T and A1298C polymorphisms on the progression chronic kidney disease in diabetic nephropathy of south Indian population. METHODS: We genotyped 145 DN cases and 100 controls for the C677T and A1298C polymorphisms using PCR-RFLP based protocols, and all diabetic nephropathy cases divided into two groups based on CKD stages: 60 DN cases were early stage (CKD1 to CKD3) and 85 DN cases were advanced stage (CKD4 and CKD5)...
December 11, 2017: Nephrology
https://www.readbyqxmd.com/read/29226645/thrombophilic-mutations-among-patients-with-sickle-cell-disease
#2
Rim B Nefissi, Faida Ouali, Taieb Massaoud, Nasreddine Gritli
BACKGROUND: Factor V-Leiden (FVL), Prothrombin (PRT) G20210A, and Methylene Tetrahydro Folate Reductase (MTHFR) C677T and A1298C mutations are major inherited risk factors of thrombotic complications. Our aim in this study was to investigate the prevalence of these mutations among Tunisian sickle cell patients. METHODS: Study subjects comprised 64 patients and 100 healthy controls. FVL, PRT G20210A, and MTHFR genotypes were determined using a reverse dot blot based method...
November 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/29212064/mthfr-a1298c-and-c677t-polymorphisms-are-associated-with-increased-risk-of-venous-thromboembolism-a-retrospective-chart-review-study
#3
Fang Liu, Danuzia Silva, Mariuxi Viteri Malone, Kala Seetharaman
BACKGROUND: Methylene tetrahydrofolate reductase (MTHFR) is a key enzyme in homocysteine metabolism. This study aims to determine the impact of MTHFR polymorphisms on plasma homocysteine levels and risks of venous thromboembolism (VTE). METHODS: This retrospective chart review study included a total of 188 subjects who were tested for MTHFR polymorphisms at Metrowest Coagulation Laboratory between April 2011 and April 2016. Two independent coders were trained to extract relevant clinical data for statistical analysis...
December 7, 2017: Acta Haematologica
https://www.readbyqxmd.com/read/29209581/methylenetetrahydrofolate-reductase-a1298c-polymorphism-and-major-depressive-disorder
#4
REVIEW
Kevin Cho, Zubair M Amin, Jie An, Kerry Anne Rambaran, Tyler B Johnson, Saeed K Alzghari
Major depressive disorder (MDD) is a disorder that carries significant psychosocial and economic implications. Research efforts have focused on identifying biomarkers that can aid in the prediction, diagnosis, and efficacious treatment of MDD. Most of this focus has been placed on a polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene, C677T. MTHFR C677T is screened during MDD diagnosis in many protocols. However, MTHFR C667T poses conflicting data in various ethnic groups and geographic populations calling into question its utility...
October 1, 2017: Curēus
https://www.readbyqxmd.com/read/29202788/mthfr-a1298c-polymorphisms-reduce-the-risk-of-congenital-heart-defects-a-meta-analysis-from-16-case-control-studies
#5
REVIEW
Di Yu, Zhulun Zhuang, Zhongyuan Wen, Xiaodong Zang, Xuming Mo
BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) plays a crucial role in the hyperhomocysteinemia, which is a risk factor related to the occurrence of congenital heart defect (CHD). However, the association between MTHFR polymorphism and CHD has been inconclusive. METHODS: We conducted an updated meta-analysis to provide comprehensive evidence on the role of MTHFR A1298C polymorphism in CHD. Databases were searched and a total of 16 studies containing 2207 cases and 2364 controls were included...
December 4, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29168367/neonatal-cerebral-sinovenous-thrombosis-two-cases-two-different-gene-polymorphisms-and-risk-factors
#6
Özden Turan, Deniz Anuk-İnce, Lale Olcay, Taner Sezer, Kaan Gülleroğlu, Zerrin Yılmaz-Çelik, Ayşe Ecevit
Turan Ö, Anuk-İnce D, Olcay L, Sezer T, Gülleroğlu K, Yılmaz-Çelik Z, Ecevit A. Neonatal cerebral sinovenous thrombosis: Two cases, two different gene polymorphisms and risk factors. Turk J Pediatr 2017; 59: 71-75. Cerebral sinovenous thrombosis (CSVT) is a rare disease in the neonatal period and also the greatest risk of neonatal mortality and morbidity. In this report, we presented two cases with CSVT and different risk factors. One of these cases had methylenetetrahydrofolate reductase (MTHFR) C677T homozygous polymorphism and the other case had both MTHFR A1298C homozygous polymorphism, plasminogen activator inhibitor-1 (PAI-1) 4G/ 5G polymorphism and elevated lipoprotein a...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29130768/screening-of-six-polymorphisms-related-with-folate-metabolism-in-parents-of-individuals-with-down-syndrome
#7
Marly Balarin, Mariângela Cintra, Fernanda Cordeiro, Lucila Naves, Roseane Silva-Grecco
OBJECTIVE: The study aim to investigate MTHFR C677T, MTHFR A1298C, RFC1 A80G, MTR A2756G, CBS 844ins68, MTRR A66G polymorphisms in Down syndrome (DS) parents. METHODS: Polymorphisms were evaluated in 35 mothers and 24 fathers of individuals with free trisomy of chromosome 21 confirmed by karyotype. The control group included 26 mothers and 26 fathers who had no children with DS. The molecular analysis was performed by Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) (Reaction Chain Polymerase Restriction Fragment Length Polymorphism) or Polymerase Chain Reaction (PCR)...
November 12, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29115087/methylenetetrahydrofolate-reductase-polymorphisms-and-risk-of-recurrent-pregnancy-loss-a-case-control-study
#8
Kyu Ri Hwang, Young Min Choi, Jin Ju Kim, Sung Ki Lee, Kwang Moon Yang, Eun Chan Paik, Hyeon Jeong Jeong, Jong Kwan Jun, Sang Ho Yoon, Min A Hong
The balance between coagulation and fibrinolysis is an essential part in early pregnancy. Mutations in methylenetetrahydrofolate reductase (MTHFR) gene lead to decreased activity of the enzyme and hyperhomocysteinemia, which then induces platelet aggregation by promoting endothelial oxidative damage, possibly resulting in adverse effect on maintenance of pregnancy. We investigated the role of MTHFR single nucleotide polymorphisms (SNPs), C677T and A1298C, in Korean patients with recurrent pregnancy loss (RPL)...
December 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29097250/mthfr-c677t-and-a1298c-polymorphisms-may-contribute-to-the-risk-of-parkinson-s-disease-a-meta-analysis-of-19-studies
#9
Lijun Liu, Liang Zhang, Lei Guo, Qing Yu, Hong Li, Jijun Teng, Anmu Xie
The 5,10-methylenetetrahydrofolate reductase (MTHFR) gene has been reported to be a candidate gene for susceptibility to Parkinson's disease (PD), but results of different studies are conflicting. Here, we conducted a meta-analysis of published case-control studies to evaluate the association between MTHFR C677T and A1298C gene polymorphisms with the risk of PD. Electronic search through PubMed, EmBase, ScienceDirect and Cochrane Library was conducted to identify all relevant studies. A total of 19 studies with 2746 cases and 8967 controls were included...
January 1, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29093435/recurrent-thrombosis-a-case-of-hereditary-thromboembolism
#10
Maria Concetta Giofrè, Francesca Napoli, Daniela La Rosa, Alessia Caruso, Natascia Laganà, Lucia Orlando Settembrini, Antonino Saitta, Antonio Giovanni Versace
BACKGROUND Thrombophilia is a predisposition to thrombosis. Genetic causes include antithrombin III, protein C, protein S, factor V Leiden, prothrombin 20210A allele, and MTHFR mutations. Other genetic factors causing thrombosis and pulmonary embolism have been identified in recent studies, including 4G/4G polymorphism of the PAI-1 gene. CASE REPORT A patient with a personal and family history of recurrent thrombosis and pulmonary embolism was admitted to our Internal Medicine Department. After the most common acquired risk factors for thromboembolism were ruled out, the patient and her family members underwent genetic diagnostic testing...
November 2, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29062354/vitamin-b6-and-homocysteine-levels-in-carbamazepine-treated-epilepsy-of-khyber-pakhtunkhwa
#11
Shakirullah Shakir, Niaz Ali, Zia Udin, Haleema Nazish, Muhammad Nabi
OBJECTIVES: The study focused on the plasma levels of vitamin B6 and homocysteine in different genotypes of MTHFR (C677T, A1298C) and GABRG2 (C588T, C315T) genes in carbamazepine resistant epilepsy in the population of Khyber Pakhtunkhwa. METHODOLOGY: Patients who were possible candidates for carbamazepine therapy were followed for six months for their seizure control. Plasma levels of vitamin B6 and homocysteine were determined using immunoassay based techniques at baseline and after six months...
June 2017: African Health Sciences
https://www.readbyqxmd.com/read/29038711/study-of-the-c677t-and-1298ac-polymorphic-genotypes-of-mthfr-gene-in-autism-spectrum-disorder
#12
Farida El-Baz, Mohammed Abd El-Aal, Tarek Moustafa Kamal, Abdelrahim Abdrabou Sadek, Amr Ahmed Othman
BACKGROUND: Autism is currently known as "a behaviorally defined syndrome" manifested as impairment in social communication, repetitive routines and restricted interests. There is an increased risk of ASDs associated with common mutations affecting the folate/methylation cycle. AIM: The aim of this study was to identify C677T and 1298AC polymorphic genotypes of MTHFR gene among a sample of Egyptian children with autism and to make a phenotype-genotype correlation for the autistic patients...
September 2017: Electronic Physician
https://www.readbyqxmd.com/read/28994615/mtrr-a66g-rfc1-g80a-and-mthfr-c677t-and-a1298c-polymorphisms-and-disease-activity-in-mexicans-with-rheumatoid-arthritis-treated-with-methotrexate
#13
Mirna Gisel González-Mercado, Fernando Rivas, M Patricia Gallegos-Arreola, M Cristina Morán-Moguel, Mario Salazar-Páramo, Laura González-López, J Iván Gámez-Nava, J Francisco Muñoz-Valle, Ricardo Medina-Coss Y León, Anahí González-Mercado, Mario A Aceves, Nory O Dávalos, Agustín Macías-Chumacera, Ingrid P Dávalos
AIM: To investigate the relationships of polymorphisms in genes whose protein products are related in the metabolic pathway of folic acid, particularly MTRR A66G, RFC1 G80A, and MTHFR C677T and A1298C, and disease activity in Mexican patients with rheumatoid arthritis (RA) treated with methotrexate (MTX). MATERIALS AND METHODS: Sixty-eight patients with RA were included in the study who were being treated with MTX, either with or without other drugs. In addition to general data, disease activity was measured by the disease activity score 28 (DAS28)...
November 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28976125/in-human-alleles-specific-variation-of-mthfr-c677t-and-a1298c-associated-risk-factor-for-the-development-of-ovarian-cancer
#14
Anupama Singh, S Pandey, L K Pandey, Ajit K Saxena
Etiopathology of tumor biology is highly complex and ovarian cancer is one of the important gynaecological neoplasia associated with <b>high risk<b> of mortality rate. Methlenetetrahydrofolate reductase (MTHFR) mutation are commonly linked to folate metabolism with increased risk factor for the development of neural tube defects, recurrent pregnancy loss and development of several type of cancer but genetic interaction between two alleles of MTHFR has been poorly defined in ovarian cancer in India...
September 2017: Journal of Experimental Therapeutics & Oncology
https://www.readbyqxmd.com/read/28936998/venous-thromboembolism-due-to-hyperhomocysteinaemia-and-tuberculosis
#15
Ankush Chaudhary, Unnati Desai, Jyotsna M Joshi
An 18-year-old male presented to our hospital with complaints of episodic abdominal pain, dry cough and right pleuritic chest pain. He was diagnosed as a case of right tuberculous pleural effusion on the basis of the pleural fluid Genexpert report of Mycobacterium tuberculosis detected sensitive to rifampicin and was started on antituberculous therapy. Forty-five days later, he presented with acute onset breathlessness, swelling of the right leg, streaky haemoptysis and a fresh left-sided pleural effusion. Evaluation revealed venous thromboembolism (right lower lobar segment pulmonary embolism with right leg deep vein thrombosis)...
May 2017: National Medical Journal of India
https://www.readbyqxmd.com/read/28915669/folate-metabolism-genetic-polymorphisms-and-meningioma-and-glioma-susceptibility-in-adults
#16
Dongming Chen, Jun Dong, Ying Huang, Feng Gao, Xiaopeng Yang, Xianglun Gong, Xiaochen Lv, Chenghao Chu, Yonggang Wu, Yong Zheng
Polymorphic variants of genes involved in folate metabolism are implicated in the susceptibility to meningioma and glioma, but the results from published articles are controversial and inconclusive. Therefore, we performed this meta-analysis including all studies available to evaluate the relationship between folate metabolism genetic polymorphisms and the susceptibility to meningioma and glioma in adults. We searched the literature in PubMed, EMBASE and Cochrane Central Library for relevant articles published up to August 2016...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28887233/methotrexate-pharmacogenetics-in-uruguayan-adults-with-hematological-malignant-diseases
#17
Andrea Giletti, Marcelo Vital, Mariana Lorenzo, Patricia Cardozo, Gabriel Borelli, Raúl Gabus, Lem Martínez, Lilian Díaz, Rodrigo Assar, María Noel Rodriguez, Patricia Esperón
BACKGROUND: Individual variability is among the causes of toxicity and interruption of treatment in acute lymphoblastic leukemia (ALL) and severe non-Hodgkin lymphoma (NHL) patients under protocols including Methotrexate (MTX): 2,4-diamino-N10-methyl propyl-glutamic acid. METHODS: 41 Uruguayan patients were recruited. Gene polymorphisms involved in MTX pathway were analyzed and their association with treatment toxicities and outcome was evaluated. RESULTS: Genotype distribution and allele frequency were determined for SLC19A1 G80A, MTHFR C677T and A1298C, TYMS 28bp copy number variation, SLCO1B1 T521C, DHFR C-1610G/T, DHFR C-680A, DHFR A-317G and DHFR 19bp indel...
September 5, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28862175/methylenetetrahydrofolate-reductase-a1298c-genetic-variant-risk-of-schizophrenia-a-meta-analysis
#18
REVIEW
Vandana Rai, Upendra Yadav, Pradeep Kumar, Sushil K Yadav, Sanjay Gupta
BACKGROUND & OBJECTIVES: Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme of folate metabolism, whose role in schizophrenia is debatable. Numerous case-control studies have investigated the association of MTHFR A1298C polymorphism with schizophrenia, but results are controversial. The aim of the present study was to find the association between MTHFR A1298C gene polymorphism and schizophrenia. METHODS: PubMed, Google Scholar, Science Direct and Springer link databases were searched for case-control association studies in which MTHFR A1298C polymorphism was investigated as a risk factor for schizophrenia...
April 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28814189/association-of-methylenetetrahydrofolate-reductase-c677t-and-a1298c-gene-polymorphisms-with-recurrent-pregnancy-loss-in-syrian-women
#19
Walid Al-Achkar, Abdulsamad Wafa, Samer Ammar, Faten Moassass, Rami A Jarjour
C677T polymorphism of the methylenetetrahydrofolate reductase ( MTHFR) gene was a risk factor for recurrent pregnancy loss (RPL), but few studies have confirmed a possible role of MTHFR A1298C polymorphism in RPL risk. This study was carried out to determine the influence of the MTHFR gene polymorphisms in RPL Syrian women. A case-control study was performed on 2 groups (106 healthy and 100 RPL women). The frequency of the MTHFR gene polymorphisms was determined by polymerase chain reaction based on restriction fragment length gene polymorphism...
September 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/28734273/association-between-thrombophilic-genes-polymorphisms-and-recurrent-pregnancy-loss-susceptibility-in-the-iranian-population-a-systematic-review-and-meta-analysis
#20
Mahdieh Kamali, Sedigheh Hantoushzadeh, Sedigheh Borna, Hossein Neamatzadeh, Mahta Mazaheri, Mahmood Noori-Shadkam, Fatemeh Haghighi
Background: Studies have indicated that thrombophilic genes polymorphisms are associated with recurrent pregnancy loss (RPL) in the Iranian population. However, the results from these studies remained inconsistent and inconclusive. The aim of this systematic review and meta-analysis was to evaluate the precise association between thrombophilic genes polymorphisms (MTHFR C677T, MTHFR A1298C, Prothrombin G20210A, FVL G1691A, and PAI-1 4G/5G) and RPL risk in the Iranian population. Method: Electronic databases of PubMed, Web of Science, Google Scholar, and ISC were searched for eligible articles published up to April 1, 2017...
July 23, 2017: Iranian Biomedical Journal
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