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MTHFR C677T

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https://www.readbyqxmd.com/read/29330520/association-of-homocysteine-with-aysmptomatic-intracranial-and-extracranial-arterial-stenosis-in-hypertension-patients
#1
Yan Wang, Jin Zhang, Yuesheng Qian, Xiaofeng Tang, Huawei Ling, Kemin Chen, Yan Li, Pingjin Gao, Dingliang Zhu
Elevated plasma homocysteine (Hcy) is suggested as an independent risk factor for stroke. We aimed to investigate the association of Hcy concentration with intracranial atherosclerosis (ICAS) and extracranial AS (ECAS) in hypertensive patients without stroke in Chinese population and to explore modified effect of methylenetetrahydrofolate reductase (MTHFR) C677T on their relationship. The stenosis of intracranial and extracranial arteries were evaluated in a total of 929 subjects through computerized tomographic angiography (CTA) from aortic arch to the skull base...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29321350/neuro-fuzzy-model-of-homocysteine-metabolism
#2
Shaik Mohammad Naushad, Akella Radha Rama Devi, Sriraman Nivetha, Ganapathy Lakshmitha, Alex Balraj Stanley, Tajamul Hussain, Vijay Kumar Kutala
In view of well-documented association of hyperhomocysteinaemia with a wide spectrum of diseases and higher incidence of vitamin deficiencies in Indians, we proposed a mathematical model to forecast the role of demographic and genetic variables in influencing homocysteinemetabolism and investigated the influence of life style modulations in controlling homocysteine levels. Total plasma homocysteine levels were measured in fasting samples using reverse phase HPLC. Multiple linear regression (MLR) and neuro-fuzzy models were developed...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29315997/systematic-review-and-meta-analysis-of-the-associations-between-maternal-methylenetetrahydrofolate-reductase-polymorphisms-and-preterm-delivery
#3
Qiwen Fang, Yixuan Jiang, Zhenqiu Liu, Zhijie Zhang, Tiejun Zhang
AIM: To date, reported associations between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and preterm delivery are conflicting. The present meta-analysis summarized the existing evidence and evaluated these associations. METHODS: Eligible studies were retrieved from Medline (PubMed), EMBASE, the Chinese Biomedical Literature Database and the Cochrane Library. We calculated pooled odds ratios (ORs) and 95% confidence interval (CIs) within five genetic models using either random-effects or fixed-effects models dependent on study heterogeneity...
January 5, 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29245302/mthfr-c677t-gene-polymorphism-and-the-severity-of-coronary-lesions-in-acute-coronary-syndrome
#4
Miao-Nan Li, Hong-Ju Wang, Ning-Ru Zhang, Ling Xuan, Xiao-Jun Shi, Tong Zhou, Bin Chen, Jun Zhang, Hui Li
The association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism, circulating levels of homocysteine (Hcy), and the severity of coronary lesion in patients with acute coronary syndrome (ACS) remains unknown.Consecutive ACS patients were included. MTHFR C677T polymorphisms were determined via amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). Gensini scores were used to evaluate the severity of coronary lesions.Three hundred ten ACS patients were included, and grouped according to the MTHFR C677T polymorphism variant: CC (n = 78, 25...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29227003/association-between-end-stage-diabetic-nephropathy-and-mthfr-c677t-and-a1298c-gene-polymorphisms
#5
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
#6
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/29222982/association-between-mthfr-variant-and-diabetic-neuropathy
#7
Armita Kakavand Hamidi, Mania Radfar, Mahsa M Amoli
BACKGROUND: Methylene-tetrahydrofolate reductase (MTHFR) gene variant may play an important role in the pathophysiology of diabetes and its complications due to its influence on plasma homocysteine levels and also its effect on scavenging peroxynitrite radicals. Diabetic peripheral neuropathy (DPN) is one of the most common diabetic chronic complications. The aim of this study was to investigate the relationship between diabetic neuropathy and MTHFR gene C677T and 1298A ⁄C polymorphisms...
April 26, 2017: Pharmacological Reports: PR
https://www.readbyqxmd.com/read/29222906/low-maternal-folate-concentrations-and-maternal-mthfr-c677t-polymorphism-are-associated-with-an-increased-risk-for-neural-tube-defects-in-offspring-a-case-control-study-among-pakistani-case-and-control-mothers
#8
Nuzhat Nauman, Samina Jalali, Sajjad Shami, Shireen Rafiq, Greta Große, Alina C Hilger, Rhong Zhang, Saira Mansoor, Michael Ludwig, Heiko Reutter
BACKGROUND AND OBJECTIVES: There is considerable evidence that periconceptional maternal folate deficiency and coding variants in maternal genes coding for critical enzymes in the folate pathway are associated with neural tube defects (NTDs) in offspring. In a case-control study we investigated C677T polymorphism in the 5,10- methylenetetrahydrofolate reductase (MTHFR) gene in case and control mothers of Pakistani origin, and compared these with the respective maternal folate concentrations measured at the time of delivery...
2018: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29218949/-study-on-relationship-between-constitution-and-syndrome-of-mmp-9-il-6-and-mthfr-gene-in-patients-with-ischemic-stroke
#9
Shuai-Ling Sun, Yan-Ming Xie, Yin Zhang, Zhi-Fei Wang, Jing Yang, Dan-Qiao Wang, Yue Jiao, Jun Chen, Yan-Hui Tao
By studying the relationship between syndromes, physique and MMP-9, IL-6 and MTHFR gene polymorphisms in patients with ischemic stroke,The relationship between MMP-9, IL-6 and MTHFR gene polymorphism was analyzed in patients with ischemic stroke.The data were collected by collecting the data of patients with ischemic stroke, and the statistical analysis was carried out. Syndrome:61 cases of ischemic stroke patients with stroke phlegm stasis syndrome in patients with the highest frequency, a total of 30 cases; Physical constitution: phlegm is ischemic stroke patients prone to physical, a total of 20 cases; The analysis of the relationship between constitution and syndrome shows that the patients with qi deficiency constitution tend to show qi deficiency and blood stasis syndrome after onset, The analysis of the relationship between constitution and syndrome shows that the patients with qi deficiency constitution tend to show qi deficiency and blood stasis syndrome after onset, Phlegm constitution and physical condition after the onset of symptoms tend to wind phlegm stasis syndrome; Syndrome and MMP-9, IL-6 relationship:The distribution of MMP-9 and IL-6 in patients with qi and phlegm stasis syndrome and qi deficiency and blood stasis syndrome was significantly different from that in Z test (P<0...
September 2017: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
https://www.readbyqxmd.com/read/29212064/mthfr-a1298c-and-c677t-polymorphisms-are-associated-with-increased-risk-of-venous-thromboembolism-a-retrospective-chart-review-study
#10
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
#11
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/29190865/-c677t-snp-of-methylenetetrahydrofolate-reductase-gene-and-breast-cancer-in-mexican-women
#12
Ana Laura Calderón-Garcidueñas, Ricardo Martín Cerda-Flores, Ana Lilia Castruita-Ávila, Juan Francisco González-Guerrero, Hugo Alberto Barrera-Saldaña
BACKGROUND: Low-penetrance susceptibility genes such as 5,10-methylenetetrahydrofolate reductase gene (MTHFR) have been considered in the progression of breast cancer (BC). Cancer is a result of genetic, environmental and epigenetic interactions; therefore, these genes should be studied in environmental context, because the results can vary between populations and even within the same country. The objective was to analyze the allelic and genotypic frequencies of the MTHFR C667T SNP in Mexican Mestizo patients with BC and controls from Northeastern Mexico...
November 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/29186089/correlation-between-methylenetetrahydrofolate-reductase-mthfr-c677t-polymorphisms-and-pemetrexed-chemotherapy-efficacy-toxicity-in-non-squamous-non-small-cell-lung-cancer
#13
Gaochen Lan, Lin Lin, Xiong Chen, Libin Chen, Xi Chen
BACKGROUND In the present study, we aimed to retrospectively analyze the correlation between toxicity of pemetrexed (PEM) chemotherapy and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms in patients with advanced non-squamous non-small cell lung cancer (non-sq NSCLC). MATERIAL AND METHODS We used polymerase chain reaction, gene scanning, and restriction fragment length polymorphism to analyze MTHFR C677T in 51 patients with advanced non-sq NSCLC. The patients received chemotherapies with single-agent PEM (monotherapy group) or with PEM combined with cisplatin (joint group)...
November 29, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/29182429/the-relationship-between-methylenetetrahydrofolate-reductase-c677t-polymorphism-and-diabetic-retinopathy-a-meta-analysis-in-multiethnic-groups
#14
Da Chen, Jihong Wang, Zengrenqing Dan, Xi Shen, Danyangji Ci
BACKGROUND: Many studies have analyzed the association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and diabetic retinopathy (DR), however, the results remained inconclusive. We therefore aim to address this association by performing a meta-analysis in multiethnic groups. METHODS: Related studies were identified from PubMed and Chinese databases up to October 2016. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the strength of the associations...
November 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29168367/neonatal-cerebral-sinovenous-thrombosis-two-cases-two-different-gene-polymorphisms-and-risk-factors
#15
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/29134491/dpyd-2a-and-mthfr-c677t-predict-toxicity-and-efficacy-respectively-in-patients-on-chemotherapy-with-5-fluorouracil-for-colorectal-cancer
#16
Noor Ahmed Nahid, Mohd Nazmul Hasan Apu, Md Reazul Islam, Samia Shabnaz, Surid Mohammad Chowdhury, Maizbha Uddin Ahmed, Zabun Nahar, Md Siddiqul Islam, Mohammad Safiqul Islam, Abul Hasnat
BACKGROUND: Significant inter-individual variation in the sensitivity to 5-fluorouracil (5-FU) represents a major therapeutic hindrance either by impairing drug response or inducing adverse drug reactions (ADRs). This study aimed at exploring the cause behind this inter-individual alterations in consequences of 5-fluorouracil-based chemotherapy by investigating the effects of DPYD*2A and MTHFR C677T polymorphisms on toxicity and response of 5-FU in Bangladeshi colorectal cancer patients...
November 13, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/29130768/screening-of-six-polymorphisms-related-with-folate-metabolism-in-parents-of-individuals-with-down-syndrome
#17
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/29125573/tailoring-nutritional-advice-for-mexicans-based-on-prevalence-profiles-of-diet-related-adaptive-gene-polymorphisms
#18
Claudia Ojeda-Granados, Arturo Panduro, Karina Gonzalez-Aldaco, Maricruz Sepulveda-Villegas, Ingrid Rivera-Iñiguez, Sonia Roman
Diet-related adaptive gene (DRAG) polymorphisms identified in specific populations are associated with chronic disorders in carriers of the adaptive alleles due to changes in dietary and lifestyle patterns in recent times. Mexico's population is comprised of Amerindians (AM) and Mestizos who have variable AM, European (EUR) and African genetic ancestry and an increased risk of nutrition-related chronic diseases. Nutritional advice based on the Mexican genome and the traditional food culture is needed to develop preventive and therapeutic strategies...
November 10, 2017: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29117460/maternal-folic-acid-use-during-pregnancy-mthfr-polymorphism-and-child-s-lung-function-and-asthma
#19
Herman T den Dekker, Vincent W V Jaddoe, Irwin K Reiss, Johan C de Jongste, Liesbeth Duijts
BACKGROUND: Folic acid supplement use during pregnancy might affect childhood respiratory health, potentially mediated by methylenetetrahydrofolate-reductase polymorphism C677T (MTHFR-C677T) carriership. OBJECTIVES: We examined the associations of maternal folic acid supplement use and folate, vitamin B12 and homocysteine concentrations during pregnancy with childhood lung function and asthma. METHODS: This study was embedded in a population-based prospective cohort study among 5,653 children...
November 8, 2017: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29115087/methylenetetrahydrofolate-reductase-polymorphisms-and-risk-of-recurrent-pregnancy-loss-a-case-control-study
#20
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
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