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Mthfr c/t

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https://www.readbyqxmd.com/read/29340069/methylenetetrahydrofolate-reductase-tagging-polymorphisms-are-associated-with-risk-of-esophagogastric-junction-adenocarcinoma-a-case-control-study-involving-2-740-chinese-han-subjects
#1
Guowen Ding, Yafeng Wang, Yu Chen, Jun Yin, Chao Liu, Yu Fan, Hao Qiu, Weifeng Tang, Shuchen Chen
In this study, we aimed to determine the potential association of MTHFR tagging single nucleotide polymorphisms (SNPs) with risk of developing esophagogastric junction adenocarcinoma (EGJA). MTHFR rs1801133 G>A, rs3753584 T>C, rs4845882 G>A, rs4846048 A>G and rs9651118 T>C polymorphisms were genotyped in 1,677 healthy individuals and 1,063 patients with EGJA. We found that MTHFR rs1801133 G>A polymorphism was significantly associated with the risk of developing EGJA (AA vs. GG: adjusted P = 0...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29325775/nutrigenetic-variants-and-cardio-metabolic-risk-in-women-with-or-without-gestational-diabetes
#2
Marica Franzago, Federica Fraticelli, Daniela Marchetti, Claudio Celentano, Marco Liberati, Liborio Stuppia, Ester Vitacolonna
AIM: Gestational diabetes mellitus (GDM) is the most frequent metabolic disorder in pregnancy and it can be considered a silent risk associated to T2DM and CVD later in life. The aim of this study was to investigate the association of clinical parameters with nine single nucleotide polymorphisms (SNPs) involved with nutrients and metabolism in women with or without GDM in order to identify potential routine clinical markers for early prevention. METHODS: Nine gene variants associated with nutrients and metabolism, namely PPARG2 rs1801282 (C>G); PPARGC1A rs8192678 (C>T); TCF7L2 rs7903146 (C>T); LDLR rs2228671 (C>T); MTHFR rs1801133 (C>T); APOA5 rs662799 (T>C); GCKR rs1260326 (C>T); FTO rs9939609 (T>A); MC4R rs17782313 (T>C) were genotyped in 104 GDM cases and 124 controls using High Resolution Melting (HRM) analysis...
January 8, 2018: Diabetes Research and Clinical Practice
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/29299826/differentiation-of-antemortem-pulmonary-thromboembolism-and-postmortem-clot-with-unenhanced-mri-a-case-report
#4
Ingo von Both, Silvio Giancarlo Bruni, Jayantha C Herath
We report a case of a 39-year-old woman who died of fulminant pulmonary thromboembolism (PE). Autopsy showed classical findings of fulminant PE with occlusion of the bilateral main stem pulmonary arteries. Ancillary testing revealed inherited thrombophilia (Prothrombin 20,210 G > A and MTHFR 677 C > T mutation). Pre-autopsy postmortem computed tomography was used to test whether virtual imaging studies alone (virtual autopsy) would be sufficient to detect PE. Our studies show that computed tomography (CT) can differentiate antemortem clots from a postmortem clot in certain cases, particularly when combined with magnetic resonance imaging (MRI), which is superior in the assessment of soft tissue...
January 4, 2018: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/29299150/methylenetetrahydrofolate-reductase-tagging-polymorphisms-are-associated-with-risk-of-non-small-cell-lung-cancer-in-eastern-chinese-han-population
#5
Hao Ding, Yafeng Wang, Yuanmei Chen, Chao Liu, Hao Qiu, Mingqiang Kang, Weifeng Tang
Previous reports implicated 5,10-ethylenetetrahydrofolate reductase (MTHFR) polymorphisms acted as a potential risk factor for several cancers. In order to explore the effect of MTHFR SNPs on non-small cell lung cancer (NSCLC), we selected MTHFR tagging single nucleotide polymorphisms (SNPs) and carried out a case-control study to determine the potential relationship of MTHFR SNPs with NSCLC risk. Our study consisted of 521 NSCLC patients and 1,030 non-cancer controls. MTHFR SNPs were genotyped by SNPscanTM genotyping assay...
December 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/29289372/childhood-abuse-experiences-and-the-comt-and-mthfr-genetic-variants-associated-with-male-sexual-orientation-in-the-han-chinese-populations-a-case-control-study
#6
Jia-Bi Qin, Guang-Lu Zhao, Feng Wang, Yu-Mao Cai, Li-Na Lan, Lin Yang, Tie-Jian Feng
BACKGROUND: Although it is widely acknowledged that genetic and environmental factors are involved in the development of male homosexuality, the causes are not fully understood. AIM: To explore the association and interaction of childhood abuse experiences and genetic variants of the catechol-O-methyltransferase (COMT) and methylenetetrahydrofolate reductase (MTHFR) genes with the development of male homosexuality. METHODS: A case-control study of 537 exclusively homosexual men and 583 exclusively heterosexual men was conducted, with data collected from March 2013 to August 2015...
January 2018: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/29246599/manifestations-of-neurological-symptoms-and-thromboembolism-in-adults-with-mthfr-deficiency
#7
Paulus S Rommer, Johannes Zschocke, Brian Fowler, Manuela Födinger, Vassiliki Konstantopoulou, Dorothea Möslinger, Elisabeth Stögmann, Erhard Suess, Matthias Baumgartner, Eduard Auff, Gere Sunder-Plassmann
BACKGROUND: Methylenetetrahydrofolate-reductase (MTHFR) deficiency is a rare autosomal recessive disorder affecting intracellular folate metabolism with affection of different organ systems and clinical manifestation usually in childhood. OBJECTIVE: We report on four adult members of a family with MTHFR deficiency presenting with neurological and thromboembolic complications in adulthood. METHODS: Extensive diagnostic work-up including genetic testing was performed in four adult members...
December 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29235504/the-%C3%AE-fibrinogen-gene-455g-a-polymorphism-associated-with-cardioembolic-stroke-in-atrial-fibrillation-with-low-cha2ds2-vasc-score
#8
Xiaofeng Hu, Junjun Wang, Yaguo Li, Jiong Wu, Song Qiao, Shanhu Xu, Jun Huang, Linhui Chen
Previous work has suggested that ischemic stroke (IS) may be more likely to occur in individuals with a genetic predisposition. In this study, we investigated the potential association of IS-relevant genetic risk factors with cardioembolic stroke (CES) in atrial fibrillation (AF) patients with low CHA2DS2-VaSc score. Genotyping was performed using the GenomeLab SNPstream genotyping platform for five IS-relevant SNPs (MMP-9 C1562T, ALOX5AP SG13S114A/T, MTHFR 677 C/T, FGB 455 G/A, and eNOS G298A) in 479 AF patients with CES and 580 age and sex-matched AF patients without CES...
December 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29226645/thrombophilic-mutations-among-patients-with-sickle-cell-disease
#9
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/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
#10
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/29205204/mthfr-ts-and-xrcc1-genetic-variants-may-affect-survival-in-patients-with-myelodysplastic-syndromes-treated-with-supportive-care-or-azacitidine
#11
G Visani, F Loscocco, A Ruzzo, S Galimberti, F Graziano, M T Voso, E Giacomini, C Finelli, E Ciabatti, E Fabiani, S Barulli, A Volpe, D Magro, P Piccaluga, F Fuligni, M Vignetti, P Fazi, A Piciocchi, E Gabucci, M Rocchi, M Magnani, A Isidori
We evaluated the impact of genomic polymorphisms in folate-metabolizing, DNA synthesis and DNA repair enzymes on the clinical outcome of 108 patients with myelodysplastic syndromes (MDS) receiving best supportive care (BSC) or azacitidine. A statistically significant association between methylenetetrahydrofolate reductase (MTHFR) 677T/T, thymidylate synthase (TS) 5'-untranslated region (UTR) 3RG, TS 3'-UTR -6 bp/-6 bp, XRCC1 399G/G genotypes and short survival was found in patients receiving BSC by multivariate analysis (P<0...
December 5, 2017: Pharmacogenomics Journal
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/29185200/the-mthfr-polymorphism-affect-the-susceptibility-of-hcc-and-the-prognosis-of-hcc-liver-transplantation
#13
C Wang, H Xie, D Lu, Q Ling, P Jin, H Li, R Zhuang, X Xu, S Zheng
BACKGROUND: Methylenetetrahyfrofolate reductase (MTHFR) is the key enzyme for one carbon and folate metabolism. Previous studies have drawn different conclusions about the relationship between the mutation of MTHFR and hepatocellular carcinoma (HCC) occurrence. MTHFR polymorphisms' influence on liver transplantation for HCC recurrence has yet not been reported. Aim of this study was to clarify the impact of MTHFR polymorphism on hepatocarcinogenesis and the prognosis of liver transplant recipient with HCC...
November 28, 2017: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/29162511/the-thymidylate-synthase-enhancer-region-tser-polymorphism-increases-the-risk-of-thymic-lymphoid-hyperplasia-in-patients-with-myasthenia-gravis
#14
Angela Lopomo, Roberta Ricciardi, Anna De Rosa, Melania Guida, Michelangelo Maestri, Marco Lucchi, Franca Melfi, Alfredo Mussi, Lucia Migliore, Fabio Coppedè
BACKGROUND: Myasthenia Gravis (MG) is caused, in approximately 80% of the patients, by autoantibodies against the nicotinic acetylcholine receptor (AChR). The disease is often associated with pathological changes of the thymus: thymic epithelial tumours are present in about 10-20% of the patients, while up to 80% of the patients with early disease onset have thymic hyperplasia. Folate metabolism is required for the production of DNA precursors and for proper DNA methylation reactions, and impaired folate metabolism has been often associated with cellular growth and cancer...
November 18, 2017: Gene
https://www.readbyqxmd.com/read/29117460/maternal-folic-acid-use-during-pregnancy-mthfr-polymorphism-and-child-s-lung-function-and-asthma
#15
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/29073227/the-methylenetetrahydrofolate-reductase-c-c-677-c-t-and-c-c-1298-a-c-polymorphisms-in-reproductive-failures-experience-from-an-rsa-and-rif-study-on-a-polish-population
#16
Izabela Nowak, Aleksandra Bylińska, Karolina Wilczyńska, Andrzej Wiśniewski, Andrzej Malinowski, Jacek R Wilczyński, Paweł Radwan, Michał Radwan, Ewa Barcz, Rafał Płoski, Hanna Motak-Pochrzęst, Małgorzata Banasik, Maciej Sobczyński, Piotr Kuśnierczyk
Almost 1600 individuals from the Polish population were recruited to this study. Among them 319 were fertile couples, 289 were recurrent spontaneous abortion (RSA) couples, and 131 were in the group of recurrent implantation failure (RIF) following in vitro fertilization. The aim of this study was to evaluate the MTHFR c.c.677 C>T and c.c.1298 A>C polymorphisms' association with RSA and RIF. We used PCR-RFLP with HinfI (677 C>T) and MboII (1298 A>C) digestion. We observed a protective effect of the female AC genotype (OR = 0...
2017: PloS One
https://www.readbyqxmd.com/read/29038711/study-of-the-c677t-and-1298ac-polymorphic-genotypes-of-mthfr-gene-in-autism-spectrum-disorder
#17
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/29026722/mthfr-3-untranslated-region-polymorphisms-contribute-to-recurrent-pregnancy-loss-risk-and-alterations-in-peripheral-natural-killer-cell-proportions
#18
Eun Sun Kim, Jung Oh Kim, Hui Jeong An, Jung Hyun Sakong, Hyun Ah Lee, Ji Hyang Kim, Eun Hee Ahn, Young Ran Kim, Woo Sik Lee, Nam Keun Kim
OBJECTIVE: To identify the associations between polymorphisms of the 3'-untranslated region (UTR) of methylenetetrahydrofolate reductase (MTHFR) gene, which codes for an important regulatory enzyme primarily involved in folate metabolism, and idiopathic recurrent pregnancy loss (RPL) in Korean women. METHODS: The study population comprised 369 RPL patients and 228 controls. MTHFR 2572C>A, 4869C>G, 5488C>T, and 6685T>C 3'-UTR polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis or by TaqMan allelic discrimination assays...
September 2017: Clinical and Experimental Reproductive Medicine
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
#19
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/28969008/investigation-of-methylenetetrahydrofolate-reductase-tagging-polymorphisms-with-colorectal-cancer-in-chinese-han-population
#20
Sheng Zhang, Shuchen Chen, Yu Chen, Mingqiang Kang, Chao Liu, Hao Qiu, Yafeng Wang, Weifeng Tang
The aim of this case-control study was to assess the relationship between the tagging polymorphisms in methylenetetrahydrofolate reductase (MTHFR) gene and the susceptibility to colorectal cancer (CRC) in a Chinese Han population. A custom-by-design 48-Plex SNPscan Kit was used to determine the genotypes of MTHFR rs3753584 T>C, rs9651118 T>C, rs1801133 G>A, rs4846048 A>G and rs4845882 G>A polymorphisms in 387 CRC patients and 1,536 non-cancer controls. The results revealed that MTHFR rs1801133 G>A polymorphism was associated with a decreased risk of overall CRC...
September 8, 2017: Oncotarget
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