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https://www.readbyqxmd.com/read/28514598/the-communal-relation-of-mthfr-mtr-ace-gene-polymorphisms-and-hyperhomocysteinemia-as-conceivable-risk-of-coronary-artery-disease
#1
Rizwan Masud, Haider Zaigham Baqai
Homocysteine and its modulating genes have strongly emerged as novel biomarkers for coronary artery disease (CAD). In present study, we investigated whether polymorphisms in homocysteine pathway genes and the plasma levels of homocysteine, folate and vitamin B12, independently or in combination, are associated with CAD risk. A total of 504 participants were recruited (cases n = 254, controls n = 250, respectively). Tetra primer allele refractory mutation system (ARMS) PCR was used for resolving the genotypes of 5'10' methylenetetrahydrofolate reductase 'MTHFR' polymorphisms (rs1801133, rs1801131), 5' methyl tetrahydrofolate homocysteine methyltransferase 'MTR' polymorphism (rs1805087), paroxanse1 'PON1' polymorphism (rs662), and cystathionine beta synthase 'CBS' polymorphism (rs5742905)...
May 17, 2017: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
https://www.readbyqxmd.com/read/28480858/-analysis-of-one-carbon-metabolism-genes-and-epidermal-differentiation-complex-in-patients-with-ichthyosis-vulgaris
#2
O Fedota, L Roshchenyuk, I Sadovnychenko, I Merenkova, I Gontar, V Vorontsov
The aim of the study was to evaluate the effects of allelic polymorphism of the FLG and MTHFR genes and their associations in gynecological patients with ichthyosis vulgaris. Gynecological disorders are observed in presence of some forms of ichtyosis. From the prospective of improving nation's healthcare, the greatest attention is drawn to reproductive disorders. Based on this, the research was also tasked with studying of the genetic nature of gynecological diseases, as well as the influence of geographical latitude on the frequencies of mutagenic alleles of the FLG gene and heterogeneous carriers of these mutations...
March 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28471900/early-carotid-occlusion-after-endarterectomy-in-a-patient-with-a-mutation-for-mthfr-a1298c-polymorphism
#3
Simone Vidale, Silvio Bellocchi, Paolo Casiraghi, Roberto Caronno, Marco Arnaboldi
INTRODUCTION: Significant carotid stenosis is a well-documented risk factor for ischemic stroke. Carotid endarterectomy (CEA) and carotid artery stenting are effective procedures for the prevention of stroke in patients with this disease. However, the occurrence of restenosis could contribute to an increase in the risk of ischemic stroke. CASE REPORT: A 79-year-old woman was admitted to the Neurosurgical Department to undergo a CEA because of a progressive stenosis...
May 2017: Neurologist
https://www.readbyqxmd.com/read/28465053/successful-management-of-hereditary-angioedema-during-pregnancy-in-a-patient-with-heterozygous-mthfr-mutation
#4
Inmaculada Martinez Saguer, Carmen Escuriola Ettingshausen
No abstract text is available yet for this article.
April 29, 2017: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/28463405/studying-the-association-between-methylene-tetrahdrofolate-reductase-mthfr-677-gene-polymorphism-cardiovascular-risk-and-lichen-planus
#5
Laila Rashed, Rania Abdel Hay, Marwa AlKaffas, Shereen Ali, Dina Kadry, Sara Abdallah
BACKGROUND: There is a reported relation between hyperhomocysteinemia and lichen planus (LP). An increase in homocysteine (Hcy) and the risk of cardiovascular disease (CVD) in patients with methylenetetrahydrofolate reductase (MTHFR) mutation has been described OBJECTIVE: To detect MTHFR (C677T) gene polymorphism, and to find its association with CVD risk, Hcy and folic acid levels in patients with LP METHODS: This hospital-based case-control study included 110 patients with LP; 70 with cutaneous LP (CLP) and 40 with oral LP (OLP)...
April 30, 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/28430351/c677t-and-a1298c-polymorphisms-of-methylene-tetrahydrofolate-reductase-in-non-hodgkin-lymphoma-southeast-iran
#6
Mohammad Ali Mashhadi, Ebrahim Miri-Moghaddam, Narges Arbabi, Ali Bazi, Zahra Heidari, Zahra Sepehri, Azra Karimkoshte, Alireza Rezvan, Seyed Mahdi Hashemi
PURPOSE: Polymorphisms of the methylene tetrahydrofolate reductase (MTHFR) gene have been reported as risk factors for non-Hodgkin lymphoma (NHL) in some populations. Our goal was to evaluate the potential role of A1298C and C677T polymorphisms of MTHFR in risk of NHL in southeast Iran. METHODS: In the present case-control study, 127 patients with newly diagnosed NHL along with 150 ethnicity- and age-matched controls were examined. The A1298C and C677T polymorphisms were genotyped using the Tetra Amplification Refractory Mutation System polymerase chain reaction method...
April 14, 2017: Tumori
https://www.readbyqxmd.com/read/28427558/a-computational-approach-to-identify-the-biophysical-and-structural-aspects-of-methylenetetrahydrofolate-reductase-mthfr-mutations-a222v-e429a-and-r594q-leading-to-schizophrenia
#7
Himani Tanwar, P Sneha, D Thirumal Kumar, R Siva, Charles Emmanuel Jebaraj Walter, C George Priya Doss
The association between depression and methylenetetrahydrofolate reductase (MTHFR) has been continually demonstrated in clinical studies, yet there are sparse resources available to build a relationship between the mutations associated with MTHFR and depression. The common mutations found to be associated with schizophrenia and MTHFR are A222V, E429A, and R594Q. Although abundant research on structural and functional effects caused by A222V mutation is available, very less amount of studies have been done on the other two mutants (E429A and R594Q)...
2017: Advances in Protein Chemistry and Structural Biology
https://www.readbyqxmd.com/read/28405167/genetic-variants-and-increased-risk-of-meningioma-an-updated-meta-analysis
#8
Xiao-Yong Han, Wei Wang, Lei-Lei Wang, Xi-Rui Wang, Gang Li
PURPOSE: Various genetic variants have been reported to be linked to an increased risk of meningioma. However, no confirmed conclusion has been obtained. The purpose of the study was to investigate potential meningioma-associated gene polymorphisms, based on published evidence. MATERIALS AND METHODS: An updated meta-analysis was performed in September 2016. After electronic database searching and study screening, we selected eligible case-control studies and extracted data for meta-analysis, using Mantel-Haenszel statistics...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28397480/genetic-polymorphism-of-mthfr-c677t-influences-susceptibility-to-hbv-related-hepatocellular-carcinoma-in-a-chinese-population-a-case-control-study
#9
Kunyan Qiao, Shitian Zhang, Congdoanh Trieu, Qinghai Dai, Zhixiao Huo, Yanan Du, Wei Lu, Wei Hou
BACKGROUND: Methylene tetrahydrofolate reductase (MTHFR) is the key enzyme of folic acid metabolism and the C677T mutation is associated with decreased enzyme activity. Several studies have shown its regulatory role in carcinogenesis and tumor growth. HBV (hepatitis B virus)-related HCC (hepatocellular carcinoma) is one of the most common liver cancers worldwide. Therefore, the present case-control study aimed to investigate the role of genetic polymorphism of MTHFR C677T in the development and progression of HBV-related HCC in a Chinese population...
April 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28397471/interactions-of-methylenetetrahydrofolate-reductase-gene-polymorphisms-folate-and-homocysteine-on-blood-pressure-in-a-chinese-hypertensive-population
#10
Wen-Xing Li, Peng Liao, Chao-Yue Hu, Fei Cheng, Tao Zhang, Yuan-Yuan Sun, Ling Tang, Man-Man Wang, Kui-Sheng Liu, Dahai Liu, Fang Liu
BACKGROUND: High blood pressure is related to cardiovascular diseases. We aimed to explore the interactions of methylenetetrahydrofolate reductase (MTHTR) gene C677T and A1298C mutations and folate/homocysteine (Hcy) status on blood pressure in a Chinese hypertensive population. METHODS: The clinical data in the present study derived from a previous trial (NCT00520247). Genotypes in Hcy pathway enzymes were detected by PCR-RFLP methods. Supine blood pressure was measured with a mercury sphygmomanometer...
April 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28384716/analysis-of-mthfr-cbs-glutathione-taurine-and-hydrogen-sulfide-levels-in-retinas-of-hyperhomocysteinemic-mice
#11
Xuezhi Cui, Soumya Navneet, Jing Wang, Penny Roon, Wei Chen, Ming Xian, Sylvia B Smith
Purpose: Hyperhomocysteinemia (Hhcy) is implicated in certain retinal neurovascular diseases, although whether it is causative remains uncertain. In isolated ganglion cells (GCs), mild Hhcy induces profound death, whereas retinal phenotypes in Hhcy mice caused by mutations in remethylation (methylene tetrahydrofolatereductase [Mthfr+/-]) or transsulfuration pathways (cystathionine β-synthase [Cbs+/-]) demonstrate mild GC loss and mild vasculopathy. The current work investigated compensation in vivo of one pathway for the other, and, because the transsulfuration pathway yields cysteine necessary for formation of glutathione (GSH), taurine, and hydrogen sulfide (H2S), they were analyzed also...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28382527/multiple-thrombophilia-mutations-as-a%C3%A2-possible-cause-of-premature-myocardial-infarction
#12
Gabriela Dostálová, Jan Bělohlávek, Zuzana Hlubocká, Kristýna Bayerová, Petra Bobčiková, Tomáš Kvasnička, Jan Kvasnička, Aleš Linhart, Debora Karetová
The incidence of acute myocardial infarction (AMI) increases with clustering of predisposing risk factors. In younger subjects with a positive family history of AMI occurring in relatives under the age of 60 years without obvious risk factors for atherosclerosis, there is a potential for strong inherited traits contributing to the risk of coronary disease. Among them there is increasing evidence that hereditary thrombophilia may play a major role. We present a unique case of a patient developing AMI at the age of 48 years...
April 5, 2017: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/28341195/methylenetetrahydrofolate-reductase-mthfr-c677t-and-a1298c-polymorphisms-and-vascular-complications-in-patients-with-type-2-diabetes
#13
Najiba Fekih-Mrissa, Meriem Mrad, Hazard Ibrahim, Imen Akremi, Aicha Sayeh, Amel Jaidane, Haroun Ouertani, Borni Zidi, Nasreddine Gritli
OBJECTIVES: To assess whether 2 polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C, are risk factors for vascular complications in Tunisian patients with type 2 diabetes mellitus. METHODS: The MTHFR polymorphisms were genotyped, and plasma homocysteine levels were evaluated in 160 Tunisian patients with type 2 diabetes mellitus. RESULTS: Prevalence of the 2 heterozygous polymorphisms of the thermolabile MTHFR gene (CT and AC) was encountered more commonly in patients with diabetes mellitus than in the healthy controls (p<10(-3))...
March 21, 2017: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/28296649/a-nomogram-to-predict-5-fluorouracil-toxicity-when-pharmacogenomics-meets-the-patient
#14
Andrea Botticelli, Concetta E Onesti, Lidia Strigari, Mario Occhipinti, Francesca R Di Pietro, Bruna Cerbelli, Antonella Petremolo, Elisabetta Anselmi, Serena Macrini, Michela Roberto, Rosa Falcone, Luana Lionetto, Marina Borro, Annalisa Milano, Giovanna Gentile, Maurizio Simmaco, Paolo Marchetti, Federica Mazzuca
Fluoropyrimidines combined with other agents are commonly used for gastrointestinal cancer treatment. Considering that severe toxicities occur in 30% of patients, we aimed to structure a nomogram to predict toxicity, based on metabolic parameter and patients' characteristics. We retrospectively enrolled patients affected by gastrointestinal tract cancers. Pretreatment 5-fluorouracil (5-FU) degradation rate and DPYD, TSER, MTHFR A1298T, and C677T gene polymorphisms were characterized. Data on toxicities were collected according to CTCAE v3...
June 2017: Anti-cancer Drugs
https://www.readbyqxmd.com/read/28283826/genetic-polymorphism-of-mthfr-c677t-with-preterm-birth-and-low-birth-weight-susceptibility-a-meta-analysis
#15
Han Wu, Ping Zhu, Xingyi Geng, Zhong Liu, Liangliang Cui, Zhongchun Gao, Baofa Jiang, Liping Yang
PURPOSE: This study aimed at clarifying the association of maternal and neonatal methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with preterm birth (PTB) and low birth weight (LBW) susceptibility, respectively. MATERIALS AND METHODS: A systematic search of Embase, Medline, China Biological Medicine Database (CBM), Chinese National Knowledge Infrastructure (CNKI), and Wanfang Database was performed before June, 2016. The frequencies of maternal and neonatal MTHFR C677T genotypes in the cases and controls and other information were extracted by two independent investigators...
March 10, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28270024/human-mthfr-g1793a-transition-may-be-a-protective-mutation-against-male-infertility-a-genetic-association-study-and-in-silico-analysis
#16
Mohammad Karimian, Abasalt Hosseinzadeh Colagar
In this paper, we evaluate the association of the human methylenetetrahydrofolate reductase (MTHFR)-G1793A transition with male infertility using a case-control study, a meta-analysis and an in silico analysis. In the case-control study, 308 blood samples (169 infertile and 139 fertile men) were collected. MTHFR-G1793A genotyping was performed by PCR-RFLP. The study revealed a significant protective association between the GA genotype (OR: 0.3737, 95%CI: 0.1874-0.7452, p = 0.0052) and A allele (OR: 0.4266, 95%CI: 0...
March 7, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28241805/rapidly-progressive-psychotic-symptoms-triggered-by-infection-in-a-patient-with-methylenetetrahydrofolate-reductase-deficiency-a-case-report
#17
Shin Iida, Masataka Nakamura, Shinya Asayama, Takenobu Kunieda, Satoshi Kaneko, Hitoshi Osaka, Hirofumi Kusaka
BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn error of metabolism inherited in autosomal recessive pattern and is associated with a wide spectrum of neurological abnormalities. CASE PRESENTATION: We herein describe a 15-year-old boy with MTHFR deficiency who presented with a slowly progressive decline of school performance and a spastic gait. Rapidly deteriorating psychosis and repetitive seizures triggered by a febrile infection prompted neurological investigation...
February 28, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28241424/exome-sequencing-in-a-family-with-luminal-type-breast-cancer-underpinned-by-variation-in-the-methylation-pathway
#18
Nicole van der Merwe, Armand V Peeters, Fredrieka M Pienaar, Juanita Bezuidenhout, Susan J van Rensburg, Maritha J Kotze
Panel-based next generation sequencing (NGS) is currently preferred over whole exome sequencing (WES) for diagnosis of familial breast cancer, due to interpretation challenges caused by variants of uncertain clinical significance (VUS). There is also no consensus on the selection criteria for WES. In this study, a pathology-supported genetic testing (PSGT) approach was used to select two BRCA1/2 mutation-negative breast cancer patients from the same family for WES. Homozygosity for the MTHFR 677 C>T mutation detected during this PSGT pre-screen step was considered insufficient to cause bilateral breast cancer in the index case and her daughter diagnosed with early-onset breast cancer (<30 years)...
February 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28230599/a-targeted-next-generation-genetic-sequencing-study-on-tetralogy-of-fallot-combined-with-cleft-lip-and-palate
#19
Lin Liu, Haisong Bu, Yifeng Yang, Zhiping Tan, Fei Zhang, Shijun Hu, Tianli Zhao
BACKGROUND: Congenital heart disease (CHD), plus cleft lip and palate (CLP) are currently the most common types of structural malformation in infants. Many genes have been investigated for their involvement in CHD with CLP. Targeted next-generation sequencing can analyze large amounts of genetic information rapidly, and thus address this question. METHODS: The authors designed a targeted, next-generation sequencing gene panel for 455 genes previously implicated in CHD or CLP...
February 22, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28188925/impact-of-genetic-polymorphisms-in-key-enzymes-of-homocysteine-metabolism-on-the-pathophysiology-of-sickle-cell-anemia
#20
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
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