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MTHFR C677T

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https://www.readbyqxmd.com/read/28094233/association-between-the-mthfr-c677t-polymorphism-blood-folate-and-vitamin-b12-deficiency-and-elevated-serum-total-homocysteine-in-healthy-individuals-in-yunnan-province-china
#1
Juan Ni, Ling Zhang, Tao Zhou, Wei-Jiang Xu, Jing-Lun Xue, Neng Cao, Xu Wang
BACKGROUND: An increased serum total homocysteine (tHcy) concentration is typically associated with genetic defects involved in Hcy metabolism or related nutritional deficiencies. In this study, the combined effects of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and folate and vitamin B12 deficiency on serum total Hcy (tHcy) levels were evaluated in a healthy Chinese population in Yunnan Province, China. METHODS: The MTHFR C677T polymorphism was genotyped in 330 volunteers (164 men and 166 women) using polymerase chain reaction-restriction fragment length polymorphism analysis...
January 13, 2017: Journal of the Chinese Medical Association: JCMA
https://www.readbyqxmd.com/read/28081274/role-of-methylenetetrahydrofolate-reductase-c677t-and-a1298c-polymorphisms-in-polycystic-ovary-syndrome-risk
#2
J B Wu, J F Zhai, J Yang
Polycystic ovary syndrome is one of the most frequently encountered endocrine malfunctions. Methylenetetrahydrofolate reductase (MTHFR) plays a vital role in folate metabolism, DNA methylation, and RNA synthesis. We carried out a study to investigate the association between MTHFR C677T and A1298C genetic variations and the risk of polycystic ovary syndrome in a Chinese population. We recruited 244 patients and 257 control subjects from an Inner Mongolian Medical University to this hospital-based, case-control study...
December 23, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28081209/mthfr-c677t-a1298c-and-ms-a2756g-gene-polymorphisms-and-male-infertility-risk-in-a-chinese-population-a-meta-analysis
#3
Zhengju Ren, Pengwei Ren, Bo Yang, Kun Fang, Shangqing Ren, Jian Liao, Shengzhuo Liu, Liangren Liu, Zhufeng Peng, Qiang Dong
BACKGROUND: Methylenetetrahydrofolate reductase gene (MTHFR C677T and A1298C) and methionine synthase gene (MS A2756G) polymorphisms have shown an association with male infertility risk in several ethnic populations. Although several studies have evaluated these associations in Chinese populations, their small sample sizes and inconsistent outcomes have prevented strong conclusions. Therefore, the present meta-analysis was performed with published studies to evaluate the associations of the three single nucleotide polymorphisms (SNPs) and male infertility in a Chinese population...
2017: PloS One
https://www.readbyqxmd.com/read/28062724/mthfr-c677t-polymorphism-is-associated-with-methotrexate-induced-myelopathy-risk
#4
Kelsey Juster-Switlyk, A Gordon Smith, Tibor Kovacsovics, Deborah Stephens, Martha Glenn, Cheryl Ann Palmer, Edward P Quigley, Noah Kolb
No abstract text is available yet for this article.
January 6, 2017: Neurology
https://www.readbyqxmd.com/read/28062297/the-association-between-mthfr-gene-c677t-polymorphism-and-all-risk-based-on-a-meta-analysis-involving-17-469-subjects
#5
Beibei Zhang, Weiming Zhang, Liang Yan, Daogang Wang
BACKGROUND: The methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism is closely related to the acute lymphoblastic leukaemia (ALL) indicated by many previous epidemiologic studies. However, their conclusions were still conflicting. METHODS: Our aim is to evaluate their associations using a more comprehensive updated meta-analysis. Electronic searches were conducted to select published studies prior to February, 2016. RESULTS: Totally, 39 case-control studies including 6551 ALL cases and 10,918 controls were selected in current meta-analysis...
January 3, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28044213/polymorphisms-of-mthfr-c677t-and-a1298c-associated-with-survival-in-patients-with-colorectal-cancer-treated-with-5-fluorouracil-based-chemotherapy
#6
Chih-Ching Yeh, Ching-Yu Lai, Shih-Ni Chang, Ling-Ling Hsieh, Reiping Tang, Fung-Chang Sung, Yi-Kuei Lin
BACKGROUND: This study examined the association between methylenetetrahydrofolate reductase (MTHFR) polymorphisms and survival of patients with colorectal cancer (CRC) treated with 5-fluorouracil (5-FU)-based chemotherapy in Taiwan. METHODS: We genotyped MTHFR polymorphisms C677T (rs1801133) and A1298C (rs1801131) for 498 CRC patients treated with 5-FU-based chemotherapy after receiving surgery. Survival analyses on MTHFR polymorphisms were performed using log-rank test and Kaplan-Meier curve...
January 2, 2017: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28028860/possible-association-between-germline-methylenetetrahydrofolate-reductase-gene-polymorphisms-and-psoriasis-risk-in-a-turkish-population
#7
S Kilic, O Ozdemir, F Silan, S Isik, O Yildiz, D Karaagacli, C Silan, Z Ogretmen
BACKGROUND: Psoriasis is a common chronic inflammatory skin disease caused by genetic and epigenetic factors. There are conflicting results in the literature about the association between psoriasis and the methylenetetrahydrofolate reductase gene (MTHFR), ranging from strong linkage to no association. AIM: To investigate the association between the germline MTHFR polymorphisms C677T and A1298C with psoriasis risk in a Turkish population. METHODS: The study enrolled 84 patients with psoriasis and 212 healthy controls (HCs) without any history of psoriasis...
January 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28004270/determinants-of-folate-and-vitamin-b12-plasma-levels-in-the-french-e3n-epic-cohort
#8
Jordi de Batlle, Marco Matejcic, Veronique Chajes, Hortensia Moreno-Macias, Amina Amadou, Nadia Slimani, David G Cox, Françoise Clavel-Chapelon, Guy Fagherazzi, Isabelle Romieu
PURPOSE: Impaired B vitamin status has been identified as a risk factor for major chronic diseases. This study aims at examining the determinants of plasma folate and vitamin B12 concentrations, considering lifestyle factors and MTHFR polymorphisms. METHODS: A total of 988 women aged 40-65 years from the French E3N cohort were investigated. Intakes of folate and vitamin B12 were assessed using food frequency questionnaires, and plasma concentrations were measured by microbiological assay...
December 21, 2016: European Journal of Nutrition
https://www.readbyqxmd.com/read/28002332/the-association-of-the-mthfr-c677t-polymorphism-with-inflammatory-bowel-diseases-in-the-israeli-jewish-population-an-example-of-genetic-heterogeneity
#9
Amir Karban, Tzah Feldman, Matti Waterman, Ronit Leiba, Edna Efrati
MTHFR C677T is a common gene polymorphism that has been shown to be associated with hyperhomocysteinemia. Studies on the role of MTHFR in inflammatory bowel diseases (IBD) have yielded conflicting results, perhaps due in part to genetic heterogeneity. The prevalence of the MTHFR C677T variant allele varies according to Jewish subpopulations: Ashkenazi vs non-Ashkenazi. The aim of this study was to examine the association between MTHFR C677T genotype and IBD in the different Jewish populations.DNA samples were assessed for the presence of the MTHFR C677T variant allele in 445 Jewish Israeli IBD patients: 338 with Crohn's disease [CD] (214 Ashkenazi and 124 non-Ashkenazi Jews) and 107 with ulcerative colitis [UC] (73 Ashkenazi and 34 non-Ashkenazi Jews), and in 347 healthy controls: 173 Ashkenazi and 174 Non-Ashkenazi Jews...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27992285/are-gene-polymorphisms-related-to-treatment-outcomes-of-methotrexate-in-patients-with-rheumatoid-arthritis-a-systematic-review-and-meta-analysis
#10
Yuehong Chen, Kun Zou, Jianhong Sun, Yuan Yang, Gang Liu
AIM: Identifying the predictors of responsiveness and adverse events in methotrexate (MTX) treated patients with rheumatoid arthritis (RA) has been the focus of most concern, but still without consistent consensus. METHODS: PubMed and OVID EMBASE were searched to collect relevant studies that addressed correlations between gene polymorphisms and efficacy and/or toxicity in MTX-treated RA patients. Allelic, recessive, dominant and over-dominant model were applied...
January 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/27990443/glucose-tolerance-mthfr-c677t-and-nos3-g894t-polymorphisms-and-global-dna-methylation-in-mixed-ancestry-african-individuals
#11
Tandi E Matsha, Carmen Pheiffer, Tinashe Mutize, Rajiv T Erasmus, Andre P Kengne
The aim of this study is to quantify global DNA methylation and investigate the relationship with diabetes status and polymorphisms in MTHFR C677T and NOS3 G894T genes in mixed ancestry subjects from South Africa. Global DNA methylation was measured, and MTHFR rs1801133 and NOS3 rs1799983 polymorphisms were genotyped using high throughput real-time polymerase chain reaction and direct DNA sequencing. Of the 564 participants, 158 (28%) individuals had T2DM of which 97 (17.2%) were screen-detected cases. Another 119 (21...
2016: Journal of Diabetes Research
https://www.readbyqxmd.com/read/27983710/additive-interaction-of-mthfr-c677t-and-mtrr-a66g-polymorphisms-with-being-overweight-obesity-on-the-risk-of-type-2-diabetes
#12
Xueyuan Zhi, Boyi Yang, Shujun Fan, Yongfang Li, Miao He, Da Wang, Yanxun Wang, Jian Wei, Quanmei Zheng, Guifan Sun
Although both methylenetetrahydrofolate reductase (MTHFR) C677T and methionine synthase reductase (MTRR) A66G polymorphisms have been associated with type 2 diabetes (T2D), their interactions with being overweight/obesity on T2D risk remain unclear. To evaluate the associations of the two polymorphisms with T2D and their interactions with being overweight/obesity on T2D risk, a case-control study of 180 T2D patients and 350 healthy controls was conducted in northern China. Additive interaction was estimated using relative excess risk due to interaction (RERI), attributable proportion due to interaction (AP) and synergy index (S)...
December 15, 2016: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/27933413/investigation-on-genetic-thrombophilic-factors-in-ffpe-autopsy-tissue-from-subjects-who-died-from-pulmonary-embolism
#13
Francesco Brandimarti, Federica Alessandrini, Mauro Pesaresi, Chiara Catalani, Letizia De Angelis, Roberta Galeazzi, Simona Giovagnetti, Rosaria Gesuita, Elisa Righi, Raffaele Giorgetti, Adriano Tagliabracci
Venous thromboembolism (VTE) is a multifactorial disease determined by a combination of inherited and acquired factors. Inherited factors include mutations in the genes coding for coagulation factors, some of which seem to exert a differential influence on the risk of developing deep vein thrombosis (DVT) and pulmonary embolism (PE). In post-mortem studies of subjects who have died from pulmonary embolism (PE), the analysis of the factors that may have augmented the VTE risk is often limited to acquired factors...
December 9, 2016: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/27932499/genetic-variation-in-one-carbon-metabolism-and-changes-in-metabolic-parameters-in-first-episode-schizophrenia-patients
#14
Błażej Misiak, Łukasz Łaczmański, Natalia Kinga Słoka, Elżbieta Szmida, Ryszard Ślęzak, Patryk Piotrowski, Andrzej Kiejna, Dorota Frydecka
BACKGROUND: In this study, we aimed to investigate the effects of polymorphisms in genes encoding 1-carbon metabolism enzymes on differential development of metabolic parameters during 12 weeks of treatment with second-generation antipsychotics in first-episode schizophrenia patients. METHODS: The following polymorphisms in 1-carbon metabolism genes were genotyped: MTHFR (C677T and A1298C), MTHFD1 (G1958A), MTRR (A66G), and BHMT (G742A). A broad panel of metabolic parameters including body mass index, waist circumference, total cholesterol low and high density lipoproteins, triglycerides, homocysteine, folate, and vitamin B12 was determined...
December 8, 2016: International Journal of Neuropsychopharmacology
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
#15
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
#16
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
#17
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
#18
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/27845948/5-fluorouracil-degradation-rate-could-predict-toxicity-in-stages-ii-iii-colorectal-cancer-patients-undergoing-adjuvant-folfox
#19
Concetta E Onesti, Andrea Botticelli, Marco La Torre, Marina Borro, Giovanna Gentile, Adriana Romiti, Luana Lionetto, Antonella Petremolo, Mario Occhipinti, Michela Roberto, Rosa Falcone, Maurizio Simmaco, Paolo Marchetti, Federica Mazzuca
5-Fluorouracil is commonly used for gastrointestinal cancer treatment in an adjuvant setting; however, the toxicity can lead to a reduction, delay, or discontinuation of treatment. We retrospectively investigated the association between the 5-fluorouracil degradation rate (5-FUDR) and genetic polymorphisms of TSER, DPYD, and MHTFR with toxicity in colorectal cancer patients treated with adjuvant FOLFOX. Pretreatment 5-FUDR and MTHFR A1298T or C677T, TSER, and DPYD gene polymorphisms were characterized in stages II-III colorectal cancer patients...
November 11, 2016: Anti-cancer Drugs
https://www.readbyqxmd.com/read/27828634/methylenetetrahydrofolate-reductase-mthfr-c677t-polymorphism-in-psoriasis-in-southern-turkey
#20
Muzeyyen Izmirli, Bilge Bulbul Sen, Eminenur Rifaioglu, Bulent Gogebakan, Ozgur Aldemir, Tuba Sen, Ozlem Ekiz, Davut Alptekin
Background: Psoriasis is a multigenic and multifactorial dermatological disease linked to cardiovascular diseases. Increased levels of homocysteine in patients with psoriasis have been demonstrated in many studies. The most frequently investigated genetic defect that plays a role in homocysteine metabolism is single point substitution (C to T) located on the 677th nucleotide of the methylenetetrahydrofolate reductase gene (MTHFR). Objective: In this study, we aimed to investigate methylenetetrahydrofolate C677T polymorphism in psoriasis patients in Turkey...
September 2016: Anais Brasileiros de Dermatologia
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