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MTHFR A1298C

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https://www.readbyqxmd.com/read/29896071/molecular-assessment-of-some-cardiovascular-genetic-risk-factors-among-iraqi-patients-with-ischemic-heart-diseases
#1
Wisam Jasim Mohammed, Bassam Musa Sadik Al-Musawi, Christian Oberkanins, Helene Pühringer
Objective: The underlying molecular basis of ischemic heart diseases (IHDs) has not yet been studied among Iraqi people. This study determined the frequency and types of some cardiovascular genetic risk factors among Iraqi patients with IHDs. Methods: This is a cross-sectional study recruiting 56 patients with acute IHD during a 2-month period excluding patients >50 years and patients with documented hyperlipidemia. Their ages ranged between 18 and 50 years; males were 54 and females were only 2...
May 2018: International Journal of Health Sciences
https://www.readbyqxmd.com/read/29882091/mthfr-isoform-carriers-5-mthf-5-methyl-tetrahydrofolate-vs-folic-acid-a-key-to-pregnancy-outcome-a-case-series
#2
Edouard J Servy, Laetitia Jacquesson-Fournols, Marc Cohen, Yves J R Menezo
PURPOSE: To evaluate the possibility of correcting metabolic defects in gametes and embryos due to methylene tetra hydrofolate reductase (MTHFR) isoforms C677T and A1298C, by supplementation with 5-methyl THF instead of synthetic folic acid. In these couples, high doses of folic acid lead to UMFA (un-metabolized folic acid) syndrome. METHODS: Thirty couples with fertility problems lasting for at least 4 years, such as recurrent fetal loss, premature ovarian insufficiency, or abnormal sperm parameters, with two thirds of them having failed assisted reproductive technology (ART) attempts were included in this program...
June 7, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29804062/relevance-of-mthfr-polymorphisms-with-response-to-fluoropyrimidine-based-chemotherapy-in-oesophagogastric-cancer-a-meta-analysis
#3
Lei Zhong, Qi Fu, Shu Zhou, Lu Chen, Qian Peng
OBJECTIVE: To evaluate the association between methylenetetrahydrofolate reductase ( MTHFR ) polymorphisms and the response to fluoropyrimidine-based chemotherapy in oesophagogastric cancer. DESIGN: Meta-analysis. METHODS: We searched PubMed, Embase and Web of Science databases from inception up to October 2017 for relevant studies. The statistical analysis was performed using STATA V.12.0 software. The pooled ORs and 95% CIs were used to assess the strength of the association under the allele, dominant and recessive models...
May 26, 2018: BMJ Open
https://www.readbyqxmd.com/read/29796841/association-of-hyperhomocysteinemia-with-genetic-variants-in-key-enzymes-of-homocysteine-metabolism-and-methotrexate-toxicity-in-rheumatoid-arthritis-patients
#4
Souhir Chaabane, Meriam Messedi, Rim Akrout, Mariem Ben Hamad, Mouna Turki, Sameh Marzouk, Leila Keskes, Zouheir Bahloul, Ahmed Rebai, Fatma Ayedi, Abdellatif Maalej
OBJECTIVES: The study investigated the association between plasma homocysteine, folate and vitamin B12 with 5,10 methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), thymidylate synthase (TYMS 2R → 3R) and methionine synthase (MTR A2756G) polymorphisms and methotrexate (MTX) treatment and toxicity in Tunisian Rheumatoid arthritis (RA) patients. METHODS: A total of 185 patients with RA were included. Homocysteine (Hcy) was assessed by fluorescence polarization immunoassay, and folate and vitamin B12 were measured by chemiluminescence immunoassays...
May 23, 2018: Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.]
https://www.readbyqxmd.com/read/29793361/a-probe-directed-recombinase-amplification-assay-for-detection-of-mthfr-a1298c-polymorphism-associated-with-congenital-heart-disease
#5
Suxia Duan, Guixia Li, Xinna Li, Chen Chen, Tengfei Yan, Fangzhou Qiu, Li Zhao, Mengchuan Zhao, Le Wang, Zhishan Feng, Xuejun Ma
Single nucleotide polymorphisms (SNPs) play an important role in susceptibility to complex diseases, treatment efficacy and adverse drug responses. Conventional methods to detect SNPs are usually based on PCR or DNA sequencing, which are typically time-consuming and require sophisticated equipment. In this proof-of-concept study, a probe-directed recombinase amplification (PDRA) assay was developed to detect the A1298C polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR). The PDRA assay included two real-time reactions to detect the A and C nucleotides of A1298C polymorphism...
May 2018: BioTechniques
https://www.readbyqxmd.com/read/29778421/comparison-of-two-groups-for-the-apolipoprotein-e-polymorphisms-by-using-next-generation-sequencing-the-first-group-with-three-consecutive-abortions-and-the-second-group-with-at-most-one-abortion-in-three-consecutive-pregnancies
#6
Evren Gumus
The importance of apolipoprotein E genotypes and allelic polymorphisms in the etiology of recurrent miscarriage is controversial. We plan to investigate this in a two-group study involving more than a thousand participants. In total, 1046 subjects (802 participants in the first group, 244 participants in the second group) were investigated. Women in the first group had a history of ≥3 consecutive spontaneous miscarriage and women in the second group had at most one miscarriage in three consecutive pregnancies...
May 17, 2018: Gene
https://www.readbyqxmd.com/read/29740106/the-association-between-mthfr-polymorphism-and-cervical-cancer
#7
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
#8
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
#9
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
#10
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...
June 2018: Molecular Biology Reports
https://www.readbyqxmd.com/read/29599316/the-role-of-mthfr-genotype-in-colorectal-cancer-susceptibility-in-taiwan
#11
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
#12
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...
May 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
#13
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
#14
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...
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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