keyword
MENU ▼
Read by QxMD icon Read
search

MTHFR mutation C677T

keyword
https://www.readbyqxmd.com/read/29038711/study-of-the-c677t-and-1298ac-polymorphic-genotypes-of-mthfr-gene-in-autism-spectrum-disorder
#1
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/28976125/in-human-alleles-specific-variation-of-mthfr-c677t-and-a1298c-associated-risk-factor-for-the-development-of-ovarian-cancer
#2
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/28889200/prevalence-of-common-hereditary-risk-factors-for-thrombophilia-in-somalia-and-identification-of-a-novel-gln544arg-mutation-in-coagulation-factor-v
#3
Abshir Ali Abdi, Abdimajid Osman
Thrombophilia, commonly manifested as venous thromboembolism (VTE), is a worldwide concern but little is known on its genetic epidemiology in many parts of the globe particularly in the developing countries. Here we employed TaqMan genotyping and pyrosequencing to evaluate the prevalence of known common nucleotide polymorphisms associated with thrombophilia in a Somali population in the Puntland region of Somalia. We also employed next generation sequencing (NGS) to investigate other genetic variants in a Somali patient with deep venous thrombosis (DVT)...
September 9, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28847029/prevalence-of-the-mthfr-c677t-mutation-in-fertile-and-infertile-women
#4
Adriana de Góes Soligo, Ricardo Barini, Joyce Maria Annichino-Bizzacchi
Introduction The importance of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in infertile women remains controversial. Objective To evaluate if the MTHFR C677T mutations are more frequent in infertile women, and if they can be associated with the occurrence of infertility in the Brazilian population. Methods This case-control study included 130 infertile women consulting at a private clinic between March 2003 and March 2005 (data previously published), and 260 fertile women attending the family planning outpatient clinic of our institution between April 2012 and March 2013...
August 28, 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28729765/meta-analysis-study-to-evaluate-the-association-of-mthfr-c677t-polymorphism-with-risk-of-ischemic-stroke
#5
P A Abhinand, M Manikandan, R Mahalakshmi, P K Ragunath
Ischemic stroke is a condition characterized by reduced blood supply to part of the brain, initiating the ischemic cascade, leading to dysfunction of the brain tissue in that area. It is one of the leading causes of death and disability and is estimated to cause around 5.7 million deaths worldwide. Methyl tetra hydro-folate reductase (MTHFR) is a rate limiting enzyme in the methyl cycle which catalyzes the only biochemical reaction which produces 5, Methyl tetra hydro folate, the co-substrate for the re-methylation of homocystiene to produce methionine...
2017: Bioinformation
https://www.readbyqxmd.com/read/28702146/are-polymorphisms-in-mtrr-a66g-and-mthfr-c677t-genes-associated-with-congenital-heart-diseases-in-iranian-population
#6
Noormohammad Noori, Ebrahim Miri-Moghaddam, Asieh Dejkam, Yasman Garmie, Ali Bazi
BACKGROUND: The 5, 10-methyleneterahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) are two essential enzymes involved in folate metabolism. The relationship between genetic polymorphisms and congenital heart defects (CHDs) is inconsistent. Our aim was to investigate the association between two well-known polymorphisms of MTHFR and MTRR genes, C677T and A66G, respectively, and CHDs in Iranian patients. METHODS: We enrolled 74 patients with ventricular septal defect (VSD) and 79 with tetralogy of fallot (TOF) along with 147 healthy controls...
2017: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/28689805/the-importance-of-folate-vitamins-b6-and-b12-for-the-lowering-of-homocysteine-concentrations-for-patients-with-recurrent-pregnancy-loss-and-mthfr-mutations
#7
Danielius Serapinas, Evelina Boreikaite, Agne Bartkeviciute, Rita Bandzeviciene, Mindaugas Silkunas, Daiva Bartkeviciene
In patients with MTHFR (methylenetetrahydrofolate reductase) mutations and hyperhomocysteinemia, recurrent pregnancy loss is a frequent feature. The aim of the study was to evaluate the impact of folic acid, vitamins B6 and B12 supplementation for the lowering of total homocysteine concentrations and pregnancy. 16 patients who had had 3 or more miscarriages and MTHFR mutations were used in the study. They received methylfolate (5mg/day), vitamin B6 (50mg/day) and vitamin B12 (1mg/week). Supplementation induced a decrease in homocysteine from 19...
September 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28641625/-effect-of-gstp1-and-mthfr-gene-polymorphism-on-side-effects-of-hd-mtx-in-all-children
#8
Fei Li, Dan-Dan Yin, Xiao-Lan Zhou, Jian-Mei Ma, Hong-Mei Guo, Li Meng
OBJECTIVE: To Study the effect of C677T and MTHFR gene polymorphism on side effects of HD-MTX in ALL children. METHODS: The gene polymorphism of C677T A303G and MTHFR C677T were detected by PCR in 98 ALL children from January 2014 to January 2016. The side effects during HD-MTX therapy were observed, and the relationship among GSTP1, MTHFR gene polymorphism and incidence of side effect of HD-MTX were analyzed. RESULTS: Among 98 ALL children, the gene variation was observed in 61 ALL children (62...
June 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28627828/the-relationship-between-the-mthfr-c677t-genotypes-to-serum-anti-m%C3%A3-llerian-hormone-concentrations-and-in-vitro-fertilization-intracytoplasmic-sperm-injection-outcome
#9
Seyedeh Z Shahrokhi, Faranak Kazerouni, Firouzeh Ghaffari, Ali Rahimipour, Mir D Omrani, Arezoo Arabipoor, Ramin Lak, Elaheh T Ghane
BACKGROUND: The expression of the 5,10-methylentetrahydrofolate reductase (MTHFR) gene in human oocytes and preimplantation embryos suggests that the MTHFR gene is involved in folliculogenesis and female reproduction. Considering the importance of the MTHFR gene on female reproduction, the aim of this study was to evalu- ate the influence of MTHFR C677T polymorphism on ovarian marker reserve, particularly serum anti-Müllerian hormone (AMH) levels, and ovarian response as well as clinical pregnancy rates after in vitro fertilization (IVF)/ intracytoplasmic sperm injection (ICSI)...
May 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28540283/associations-of-mthfr-c677t-polymorphism-with-insulin-resistance-results-of-nurse-study-nursing-unacquainted-related-stress-etiologies
#10
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/28537481/investigation-of-methylenetetrahydrofolate-reductase-c677t-polymorphism-and-human-papilloma-virus-genotypes-in-iranian-breast-cancer
#11
Hanieh Rezaei, Hossein Rassi, Fahimeh Nemati Mansur
Breast cancer (BC) is the leading cause of death among Iranian women. Development of BC is a multistep process, arising from genetic changes such as methylenetetrahydrofolate reductase (MTHFR) polymorphism and infection with human papillomavirus (HPV). In this study, we investigated HPV genotypes associated with BCs and its relation with MTHFR C677T polymorphism for early detection of familial BCs. A total of 84 archival BC samples from Iran were collected. Verification of each cancer reported in a relative was sought through the pathology reports of the hospital records...
June 2017: Monoclonal Antibodies in Immunodiagnosis and Immunotherapy
https://www.readbyqxmd.com/read/28480858/-analysis-of-one-carbon-metabolism-genes-and-epidermal-differentiation-complex-in-patients-with-ichthyosis-vulgaris
#12
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/28463405/studying-the-association-between-methylenetetrahydrofolate-reductase-mthfr-677-gene-polymorphism-cardiovascular-risk-and-lichen-planus
#13
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
#14
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/28397480/genetic-polymorphism-of-mthfr-c677t-influences-susceptibility-to-hbv-related-hepatocellular-carcinoma-in-a-chinese-population-a-case-control-study
#15
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
#16
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/28341195/methylenetetrahydrofolate-reductase-mthfr-c677t-and-a1298c-polymorphisms-and-vascular-complications-in-patients-with-type-2-diabetes
#17
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
#18
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
#19
REVIEW
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...
May 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28181217/hypercoagulability-and-migraine
#20
Gretchen E Tietjen, Stuart A Collins
BACKGROUND: A growing body of literature suggests that migraineurs, particularly those with aura, have an increased risk for ischemic stroke, but not via enhanced atherosclerosis. The theory that micro-emboli induced ischemia provokes cortical spreading depression (ie, symptomatic aura) in migraineurs but transient ischemic attacks in others highlights a potential role for hypercoagulability as a link between migraine (with aura) and stroke. AIM: Our objective is to summarize the literature evaluating the association of migraine with various acquired or inheritable thrombophilic states, including those related to elevated estrogen levels, endothelial activation and dysfunction, antiphospholipid antibodies (aPL), deficiency of coagulation inhibitors, and presence of certain genetic polymorphisms...
February 9, 2017: Headache
keyword
keyword
28790
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"