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https://www.readbyqxmd.com/read/29740106/the-association-between-mthfr-polymorphism-and-cervical-cancer
#1
Jiao-Mei Gong, Yong Shen, Wan-Wan Shan, Yan-Xia He
Cervical cancer is an extremely prevalent disease worldwide. The purpose of this study was to illustrate the relationship between methylenetetrahydrofolate reductase (MTHFR) polymorphisms or methionine synthase reductase (MTRR) polymorphisms and cervical cancer. There were 372 women who performed genetic and folic acid assessments. For the MTHFR C677T, there was no significant difference in the distribution of C allele and T allele in the three groups. However, the mutant C allele of MTHFR A1298C was significantly higher in the cancer group than in the normal group...
May 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29737822/effects-of-mthfr-a1298c-polymorphism-on-peripheral-blood-folate-concentration-in-healthy-populations-a-meta-analysis-of-observational-studies
#2
Yu Xin, Lihua Wu, Xiaolin Lu, Shaofang Shangguan, Zhen Wang, Shaoyan Chang, Jiyong Yin, Wei Piao, Ting Zhang, Li Wang
BACKGROUND AND OBJECTIVES: Methylenetetrahydrofolate reductase (MTHFR) irreversibly converts 5,10- methylenetetrahydrofolate to 5-methyltetrahydrofolate, which is the main form of folate used in the body. Previous studies suggest that MTHFR polymorphism influences folate metabolism, but conflicting results are reported. We performed a meta-analysis to accurately characterize the association between MTHFR A1298C polymorphism and peripheral blood folate concentration in healthy populations...
2018: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29736261/choroidal-infarction-following-ophthalmic-artery-chemotherapy
#3
Kelley J Bohm, Y Pierre Gobin, Jasmine H Francis, Gabrielle McInerney, Anahita Dabo-Trubelja, Paul H Dalecki, Brian P Marr, David H Abramson
Background: Methylenetetrahydrofolate reductase (MTHFR) genetic mutations and intra-procedural inhaled nitrous oxide (N2 O) independently increase blood levels of homocysteine, a compound associated with thrombosis. Patients with MTHFR mutations who also receive N2 O during ophthalmic artery chemotherapy (OAC) for retinoblastoma may have a heightened thrombotic risk. Case presentations: Single-center retrospective review of pediatric patients with advanced retinoblastoma who received OAC and developed choroidal infarcts...
2018: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/29600437/cbs-mutations-and-mtfhr-snps-causative-of-hyperhomocysteinemia-in-pakistani-children
#4
Shahnaz Ibrahim, Saadia Maqbool, Maleeha Azam, Mohammad Perwaiz Iqbal, Raheel Qamar
Three index patients with hyperhomocysteinemia and ocular anomalies were screened for cystathionine beta synthase (CBS) and methylenetetrahydrofolate reductase (MTHFR) polymorphisms. Genotyping of hyperhomocysteinemia associated MTHFR polymorphisms C677T (rs1801133) and A1298C (rs1801131) was done by PCR-restriction fragment length polymorphism. Sanger sequencing was performed for CBS exonic sequences along with consensus splice sites. In the case of MTHFR polymorphisms, all the patients were heterozygous CT for the single nucleotide polymorphism (SNP) C677T and were therefore carriers of the risk allele (T), while the patients were homozygous CC for the risk genotype of the SNP A1298C...
March 29, 2018: Molecular Biology Reports
https://www.readbyqxmd.com/read/29599316/the-role-of-mthfr-genotype-in-colorectal-cancer-susceptibility-in-taiwan
#5
Kuei-Man Lin, Mei-Due Yang, Chia-Wen Tsai, Wen-Shin Chang, Chieh-Lun Hsiao, Long-Bin Jeng, Te-Cheng Yueh, Meng-Chih Lee, DA-Tian Bau
AIM: To evaluate the contribution of methylenetetrahydrofolate reductase (MTHFR) genotype to the risk of colorectal cancer (CRC) in Taiwan. MATERIALS AND METHODS: In this hospital-based case-control study, the role of MTHFR C677T (rs1801133) and A1298C (rs1801131) genotypes in determining CRC risk were investigated among 362 patients with CRC and an equal number of age- and gender-matched healthy individuals. RESULTS: The percentages of CC, CT and TT genotypes for MTHFR rs1801133 were 64...
April 2018: Anticancer Research
https://www.readbyqxmd.com/read/29564841/role-of-genetic-background-in-cardiovascular-risk-markers-changes-in-water-polo-players
#6
Debora Di Mauro, Monica Currò, Fabio Trimarchi, Mercurio Vecchio, Giuseppina Rizzo, Davide Barreca, Giuseppa Visalli, Riccardo Ientile, Daniela Caccamo
Methylene-tetrahydrofolate reductase (MTHFR) and paraoxonase 1 (PON1) gene polymorphisms have been associated with hyperhomocysteinemia and oxidative stress increase, that are established cardiovascular risk factors. Given that intense physical activity may increase the susceptibility to adverse cardiovascular outcomes, here we investigated the effects of MTHFR C677T and A1298C as well as PON1 Q192R gene polymorphisms on cardiovascular risk markers in twenty-eight male water polo elite players. The mean plasma levels of homocysteine (Hcy) and advanced oxidation protein products (AOPP) were above reference limits in resting conditions, and increased after competition...
March 21, 2018: International Journal of Sports Medicine
https://www.readbyqxmd.com/read/29555401/methylenetetrahydrofolate-reductase-gene-polymorphisms-c677t-and-a1298c-and-hemorrhagic-stroke-in-moroccan-patients
#7
Omar Abidi, Mohammed Haissam, Halima Nahili, Abdessamad El Azhari, Said Hilmani, Abdelhamid Barakat
BACKGROUND: The number of deaths from hemorrhagic strokes is about twice as high than the number of deaths from ischemic strokes. Genetic risk assessment could play important roles in preventive and therapeutic strategies. The present study was aimed to evaluate whether the MTHFR gene polymorphisms could increase the risk of cerebral hemorrhage in Moroccan patients. METHODS: A total of 113 patients with hemorrhagic stroke and 323 healthy controls were included in this case-control study...
March 16, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29554656/two-common-mthfr-gene-polymorphisms-c677t-and-a1298c-and-fetal-congenital-heart-disease-risk-an-updated-meta-analysis-with-trial-sequential-analysis
#8
Rui Zhang, Caihong Huo, Xingning Wang, Bo Dang, Yaning Mu, Yuying Wang
BACKGROUND/AIMS: Published studies indicated that the MTHFR gene polymorphisms C677T and A1298C are associated with congenital heart disease (CHD) risk in children, but obtained inconsistent results. Our study aims to reach a more accurate association between these two polymorphisms and CHD risk. METHODS: Eligible studies were obtained by screening the PubMed, Embase, China National Knowledge Infrastructure, Wan Fang and VIP databases based on designed searching strategy...
March 15, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29545912/more-severe-toxicity-of-genetic-polymorphisms-on-mthfr-activity-in-osteosarcoma-patients-treated-with-high-dose-methotrexate
#9
Lu Xie, Wei Guo, Yi Yang, Tao Ji, Jie Xu
5,10-Methylenetrahydrofolate reductase (MTHFR), a key enzyme for folate metabolism, catalyses the irreversible conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, which is located at the end of the short arm (1p36.3). Two common non-synonymous variants, the C677T (Ala222Val) and A1298C (Glu429Ala), were mainly described with decreased enzymatic activity and an alteration of intracellular folate distribution. Osteosarcomas are currently treated with high dose of methotrexate (MTX). The decreased enzyme activity of MTHFR theoretically could increase the drug action of MTX and at the same time increase toxic and side effect...
February 20, 2018: Oncotarget
https://www.readbyqxmd.com/read/29544444/significant-association-between-ercc2-and-mthr-polymorphisms-and-breast-cancer-susceptibility-in-moroccan-population-genotype-and-haplotype-analysis-in-a-case-control-study
#10
Hanaa Hardi, Rahma Melki, Zouhour Boughaleb, Tijani El Harroudi, Souria Aissaoui, Noureddine Boukhatem
BACKGROUND: Genetic determinants of breast cancer (BC) remained largely unknown in the majority of Moroccan patients. The purpose of this study was to explore the association of ERCC2 and MTHFR polymorphisms with genetic susceptibility to breast cancer in Moroccan population. METHODS: We genotyped ERCC2 polymorphisms (rs1799793 (G934A) and rs13181 (A2251C)) and MTHFR polymorphisms (rs1801133 (C677T) and rs1801131 (A1298C)) using TaqMan SNP Genotyping Assays. Genotypes were compared in 151 BC cases and 156 population-matched controls...
March 15, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29511243/interaction-between-alcohol-consumption-and-methylenetetrahydrofolate-reductase-polymorphisms-in-thyroid-cancer-risk-national-cancer-center-cohort-in-korea
#11
Sarah Yang, Jeonghee Lee, Yoon Park, Eun Kyung Lee, Yul Hwangbo, Junsun Ryu, Joohon Sung, Jeongseon Kim
The effect of alcohol intake on thyroid cancer is unestablished, and its interaction effects with genetic susceptibility are unclear. In this case-control study, the relationship among alcohol intake, the methylenetetrahydrofolate reductase (MTHFR) gene, and thyroid cancer risk has been evaluated. In total, 642 cases and 642 controls of Korean origin were included, and the genetic variants C677T and A1298C of the MTHFR gene were analysed. The interactions between alcohol-consumption behaviour and genetic variants were analysed with a likelihood ratio test, wherein a multiplicative interaction term was added to a logistic regression model...
March 6, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29462916/gene-environment-interactions-and-predictors-of-colorectal-cancer-in-family-based-multi-ethnic-groups
#12
S Pamela K Shiao, James Grayson, Chong Ho Yu, Brandi Wasek, Teodoro Bottiglieri
For the personalization of polygenic/omics-based health care, the purpose of this study was to examine the gene-environment interactions and predictors of colorectal cancer (CRC) by including five key genes in the one-carbon metabolism pathways. In this proof-of-concept study, we included a total of 54 families and 108 participants, 54 CRC cases and 54 matched family friends representing four major racial ethnic groups in southern California (White, Asian, Hispanics, and Black). We used three phases of data analytics, including exploratory, family-based analyses adjusting for the dependence within the family for sharing genetic heritage, the ensemble method, and generalized regression models for predictive modeling with a machine learning validation procedure to validate the results for enhanced prediction and reproducibility...
February 16, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29461227/-the-differentiated-approach-to-prevention-of-neural-tube-defects-in-children
#13
N Kotova, V Maichuk, O Fedorenko
Neural tube defects occupy second place in frequency after the defects of the cardiovascular system. The folate metabolism violation and hyperhomocysteinemia in women are proved to be the leading risk factors for the NTD of the fetus. Polymorphism of the 5,10-methylenetetrahydrofolate reductase gene (MTHFR) is a genetic determinant of folate metabolism violation. Admission of folic acid in a standard dose of 0.4 mg and / or the use of fortified foods does not allow reaching the protective level of folic acid if there is a mutation of the MTHFR gene or when several risk factors combine, which requires a higher dose of folic acid...
January 2018: Georgian Medical News
https://www.readbyqxmd.com/read/29451408/single-nucleotide-polymorphisms-in-key-one-carbon-metabolism-genes-and-their-association-with-blood-folate-and-homocysteine-levels-in-a-chinese-population-in-yunnan
#14
Juan Ni, Yaoxian Liu, Tao Zhou, Xiayu Wu, Xu Wang
OBJECTIVE: One-carbon metabolism (OCM) is essential for DNA synthesis and methylation. Single nucleotide polymorphisms (SNPs) within OCM genes may affect folic acid (FA) metabolism, disrupt homocysteine (Hcy) homeostasis, and increase the risk of disease. This study investigated the relationship between SNPs in key OCM genes and their association with blood FA and Hcy levels in a healthy population in Yunnan, China. METHODS: Six SNPs within five key OCM genes (MTHFR C677T, MTHFR A1298C, MS A2756G, MTRR A66G, CBS T833C, and SHMT C1420T) were genotyped in 300 healthy volunteers (148 males and 152 females) using polymerase chain reaction/restriction fragment length polymorphism...
March 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29435277/methylenetetrahydrofolate-reductase-gene-c677t-and-a1298c-polymorphisms-and-susceptibility-to-recurrent-pregnancy-loss
#15
Domenico Dell'Edera, Antonella L'Episcopia, Francesca Simone, Maria Giovanna Lupo, Annunziata Anna Epifania, Arianna Allegretti
Several studies have investigated the link between two different polymorphisms (C677T and A1298T) of the gene encoding methylenetetrahydrofolate reductase (MTHFR) and the risk of recurrent pregnancy loss (RPL); however, the results remain controversial. This study aimed to provide greater insight into this debated topic. In the current study, two groups of pregnant women (group A: RPL women; group B: non-RPL women), each of which were subdivided further into two subgroups based on their gestational age, were screened for C677T and A1298T variants of the MTHFR gene...
February 2018: Biomedical Reports
https://www.readbyqxmd.com/read/29427165/association-of-mthfr-gene-polymorphisms-with-migraine-in-north-indian-population
#16
Sukhvinder Kaur, Arif Ali, Anil Kumar Pandey, Balkirat Singh
Polymorphisms in MTHFR gene are mostly associated with increased levels of homocysteine in the absence of dietary folate and are a risk factor for complex neurovascular diseases like migraine. The aim of present case-control study was to determine the association between MTHFR gene polymorphisms (C667T; rs 1801133, A1298C; rs 1801131) with migraine susceptibility. In total, 100 patients with migraine (23with MA and 77 with MO) and age-sex matched 100 healthy controls were included in this study from OPD of ESIC Medical College & Hospital, Faridabad...
April 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29396861/opposite-impact-of-methylene-tetrahydrofolate-reductase-c677t-and-methylene-tetrahydrofolate-reductase-a1298c-gene-polymorphisms-on-systemic-inflammation
#17
Koroush Khalighi, Gang Cheng, Seyedabbas Mirabbasi, Bahar Khalighi, Yin Wu, Wuqiang Fan
BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms have been found to be related with many diseases. Systemic inflammation is now considered as a major predisposition factor for diseases including diabetes mellitus (DM), coronary arterial disease (CAD), stroke, and cancer. This study aimed to investigate whether systemic inflammation is a possible underlying pathogenesis for MTHFR gene polymorphism-related disease. METHODS: A total of 292 patients were enrolled, and single nucleotide polymorphisms for MTHFR C667T and A1298C were genotyped...
February 3, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29395491/epistasis-analysis-of-metabolic-genes-polymorphisms-associated-with-ischemic-heart-disease-in-yucatan
#18
Igrid García-González, Roger Iván López-Díaz, José Reyes Canché-Pech, Alberto de Jesús Solís-Cárdenas, Jorge A Flores-Ocampo, Renán Mendoza-Alcocer, Luis Fernando Herrera-Sánchez, Marco Antonio Jiménez-Rico, Adrián Alejandro Ceballos-López, María E López-Novelo
OBJECTIVE: Epistasis is a type of genetic interaction that could explain much of the phenotypic variability of complex diseases. In this work, the effect of epistasis of metabolic genes and cardiovascular risk on the susceptibility to the development of ischemic heart disease in Yucatan was determined. METHODS: Case-control study in 79 Yucatecan patients with ischemic heart disease and 101 healthy controls matched by age and origin with cases. The polymorphisms -108CT, Q192R, L55M (paraoxonase 1; PON1), C677T, A1298C (methylenetetrahydrofolate reductase; MTHFR), and the presence/absence of the glutathione S-transferase T1 (GSTT1) gene were genotyped...
January 28, 2018: Clínica e Investigación en Arteriosclerosis
https://www.readbyqxmd.com/read/29390492/the-methylenetetrahydrofolate-reductase-677t-1298c-haplotype-is-a-risk-factor-for-acute-lymphoblastic-leukemia-in-children
#19
Ewelina Maria Kałużna, Ewa Strauss, Bogna Świątek-Kościelna, Olga Zając-Spychała, Ewelina Gowin, Jerzy S Nowak, Jolanta Rembowska, Danuta Januszkiewicz-Lewandowska
The etiology of acute lymphoblastic leukemia (ALL) is complex, linked with both environmental exposures and genetic factors. Functional variants of the methylenetetrahydrofolate reductase (MTHFR) gene result in disturbance in folate metabolism and may affect susceptibility to cancer. The study was performed to evaluate whether MTHFR C677T and A1298C polymorphisms, analyzed separately and together, are associated with the development of ALL in a population under 18 years of age of Caucasian ancestry.The study included 117 pediatric patients (59% males, mean age at diagnosis 7...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29379315/the-rs4846049-polymorphism-in-the-3-utr-region-of-the-mthfr-gene-increases-the-migraine-susceptibility-in-an-iranian-population
#20
Mohaddeseh Salehi, Mona Amin-Beidokhti, Behnam Safarpour Lima, Milad Gholami, Gholam-Reza Javadi, Reza Mirfakhraie
Introduction: Migraine is a painful complex neurovascular disease characterized by recurrent moderate-to-severe headaches. Increased level of homocysteine is related to dilation of cerebral vessels and endothelial injury that could trigger migraine attacks. Functional polymorphisms in the MTHFR gene affect homocysteine metabolism and, therefore, play an important role in the etiology of the disease. Objectives: We aimed to investigate the possible association between MTHFR gene rs4846049, C677T, and A1298C polymorphisms and the risk of migraine in Iranian population...
2018: Journal of Pain Research
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