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MTHFR GENE

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https://www.readbyqxmd.com/read/28819944/contribution-of-inherited-thrombophilia-to-recurrent-miscarriage-in-the-polish-population
#1
Hubert Wolski, Magdalena Barlik, Krzysztof Drews, Andrzej Klejewski, Grażyna Kurzawińska, Marcin Ożarowski, Zdzisław Łowicki, Agnieszka Seremak-Mrozikiewicz
INTRODUCTION: The aim of the study was to evaluate the contribution of genetic variants determining inherited thrombophilia to recurrent miscarriage (RM) in the Polish population. The following polymorphisms were analyzed: 1691G>A, 1328T>C of coagulation factor V, 20210G>A of coagulation factor II, R353Q (11496G>A) of coagulation factor VII, 667C>T, 1298A>C, 1793G>A of MTHFR. MATERIAL AND METHODS: A total of 359 women with ≥ 2 subsequent recurrent miscarriages (303 < 13 weeks of gestation (w...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28814189/association-of-methylenetetrahydrofolate-reductase-c677t-and-a1298c-gene-polymorphisms-with-recurrent-pregnancy-loss-in-syrian-women
#2
Walid Al-Achkar, Abdulsamad Wafa, Samer Ammar, Faten Moassass, Rami A Jarjour
C677T polymorphism of the methylenetetrahydrofolate reductase ( MTHFR) gene was a risk factor for recurrent pregnancy loss (RPL), but few studies have confirmed a possible role of MTHFR A1298C polymorphism in RPL risk. This study was carried out to determine the influence of the MTHFR gene polymorphisms in RPL Syrian women. A case-control study was performed on 2 groups (106 healthy and 100 RPL women). The frequency of the MTHFR gene polymorphisms was determined by polymerase chain reaction based on restriction fragment length gene polymorphism...
September 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/28775131/blood-lead-levels-iron-metabolism-gene-polymorphisms-and-homocysteine-a-gene-environment-interaction-study
#3
Kyoung-Nam Kim, Mee-Ri Lee, Youn-Hee Lim, Yun-Chul Hong
OBJECTIVES: Homocysteine has been causally associated with various adverse health outcomes. Evidence supporting the relationship between lead and homocysteine levels has been accumulating, but most prior studies have not focused on the interaction with genetic polymorphisms. METHODS: From a community-based prospective cohort, we analysed 386 participants (aged 41-71 years) with information regarding blood lead and plasma homocysteine levels. Blood lead levels were measured between 2001 and 2003, and plasma homocysteine levels were measured in 2007...
August 3, 2017: Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/28758112/parental-genetic-variants-mthfr-677c-t-and-mtrr-66a-g-associated-differently-with-fetal-congenital-heart-defect
#4
Qian-Nan Guo, Hong-Dan Wang, Li-Zhen Tie, Tao Li, Hai Xiao, Jian-Gang Long, Shi-Xiu Liao
BACKGROUND: Congenital heart defect (CHD) is one of the most common birth defects in the world. The methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes are two of the most important candidate genes for fetal CHD. However, the correlations between the two genes and fetal CHD were inconsistent in various reports. Therefore, this study is aimed to evaluate the parental effects of the two genes on fetal CHD via three genetic polymorphisms, MTHFR 677C>T (rs1801133), MTHFR 1298 A>C (rs1801131), and MTRR 66A>G (rs1801394)...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28747156/influence-of-chemotherapeutic-drug-related-gene-polymorphisms-on-toxicity-and-survival-of-early-breast-cancer-patients-receiving-adjuvant-chemotherapy
#5
Vienna Ludovini, Cinzia Antognelli, Antonio Rulli, Jennifer Foglietta, Lorenza Pistola, Rulli Eliana, Irene Floriani, Giuseppe Nocentini, Francesca Romana Tofanetti, Simonetta Piattoni, Elisa Minenza, Vincenzo Nicola Talesa, Angelo Sidoni, Maurizio Tonato, Lucio Crinò, Stefania Gori
BACKGROUND: We investigated whether GSTT1 ("null" allele), GSTM1 ("null"allele), GSTP1 (A313G), RFC1 (G80A), MTHFR (C677T), TS (2R/3R) polymorphisms were associated with toxicity and survival in patients with early breast cancer (EBC) treated with adjuvant chemotherapy (CT). METHODS: This prospective trial included patients with stage I-III BC subjected to CT with CMF or FEC regimens. PCR-RFLP was performed for MTHFR, RFC1 and GSTP1, while PCR for TS, GSTT1 and GSTM1 genes...
July 26, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28745575/use-of-exome-sequencing-to-determine-the-full-profile-of-genetic-variants-in-the-fluoropyrimidine-pathway-in-colorectal-cancer-patients-affected-by-severe-toxicity
#6
Marta Pellicer, Xandra García-González, María I García, Carolina Blanco, Pilar García-Alfonso, Luis Robles, Cristina Grávalos, Daniel Rueda, Joaquín Martínez, Vanessa Pachón, Federico Longo, Virginia Martínez, Irene Iglesias, Sara Salvador, María Sanjurjo, Luis A López-Fernández
AIM: To identify genetic variants associated with capecitabine toxicity in fluoropyrimidine pathway genes using exome sequencing. PATIENTS & METHODS: Exomes from eight capecitabine-treated patients with severe adverse reactions (grade >2), among a population of 319, were sequenced (Ion Proton). SNPs in genes classified as potentially damaging (Sorting Intolerant from Tolerant and Polymorphism Phenotyping v2) were tested for association with toxicity in a validation cohort of 319 capecitabine-treated patients...
July 26, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28734273/association-between-thrombophilic-genes-polymorphisms-and-recurrent-pregnancy-loss-susceptibility-in-the-iranian-population-a-systematic-review-and-meta-analysis
#7
Mahdieh Kamali, Sedigheh Hantoushzadeh, Sedigheh Borna, Hossein Neamatzadeh, Mahta Mazaheri, Mahmood Noori-Shadkam, Fatemeh Haghighi
Background: Studies have indicated that thrombophilic genes polymorphisms are associated with recurrent pregnancy loss (RPL) in the Iranian population. However, the results from these studies remained inconsistent and inconclusive. The aim of this systematic review and meta-analysis was to evaluate the precise association between thrombophilic genes polymorphisms (MTHFR C677T, MTHFR A1298C, Prothrombin G20210A, FVL G1691A, and PAI-1 4G/5G) and RPL risk in the Iranian population. Method: Electronic databases of PubMed, Web of Science, Google Scholar, and ISC were searched for eligible articles published up to April 1, 2017...
July 23, 2017: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/28733526/investigation-of-methylenetetrahydrofolate-reductase-tagging-polymorphisms-with-colorectal-cancer-in-chinese-han-population
#8
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...
June 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28724658/a-daily-dose-of-5-mg-folic-acid-for-90-days-is-associated-with-increased-serum-unmetabolized-folic-acid-and-reduced-natural-killer-cell-cytotoxicity-in-healthy-brazilian-adults
#9
Clovis Paniz, Juliano Felix Bertinato, Maylla Rodrigues Lucena, Eduardo De Carli, Patrícia Mendonça da Silva Amorim, Guilherme Wataru Gomes, Cecília Zanin Palchetti, Maria Stella Figueiredo, Christine M Pfeiffer, Zia Fazili, Ralph Green, Elvira Maria Guerra-Shinohara
Background: The effects of high-dose folic acid (FA) supplementation in healthy individuals on blood folate concentrations and immune response are unknown.Objective: The aim of the study was to evaluate the effects of daily consumption of a tablet containing 5 mg FA on serum folate; number and cytotoxicity of natural killer (NK) cells; mRNA expression of dihydrofolate reductase (DHFR), methylenetetrahydrofolate reductase (MTHFR), interferon γ (IFNG), tumor necrosis factor α (TNFA), and interleukin 8 (IL8) genes; and concentrations of serum inflammatory markers...
July 19, 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28722783/the-association-of-the-placental-mthfr-3-utr-polymorphisms-promoter-methylation-and-mthfr-expression-with-preeclampsia
#10
Abbas Mohammadpour-Gharehbagh, Batool Teimoori, Mehrnaz Narooei-Nejad, Mehrnaz Mehrabani, Ramin Saravani, Saeedeh Salimi
Preeclampsia (PE) is a pregnancy specific complication arises in presence of the placenta and disappears immediately after delivery. Therefore, the aim of the present study was to investigate the possible effects of the placental 3'-UTR rs1537514C>G and rs4846049 C>A polymorphisms and DNA methylation of the MTHFR gene on the MTHFR mRNA expression. The placenta of 74 PE pregnant women and 75 normotensive pregnant women were collected after delivery. The methylation status of the MTHFR promoter was assessed with Methylation Specific PCR(MSP)...
July 19, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28717179/genetic-polymorphisms-and-platinum-based-chemotherapy-treatment-outcomes-in-patients-with-non-small-cell-lung-cancer-a-genetic-epidemiology-study-based-meta-analysis
#11
Li-Ming Tan, Cheng-Feng Qiu, Tao Zhu, Yuan-Xiang Jin, Xi Li, Ji-Ye Yin, Wei Zhang, Hong-Hao Zhou, Zhao-Qian Liu
Data regarding genetic polymorphisms and platinum-based chemotherapy (PBC) treatment outcomes in patients with NSCLC are published at a growing pace, but the results are inconsistent. This meta-analysis integrated eligible candidate genes to better evaluate the pharmacogenetics of PBC in NSCLC patients. Relevant studies were retrieved from PubMed, Chinese National Knowledge Infrastructure and WANFANG databases. A total of 111 articles comprising 18,196 subjects were included for this study. The associations of genetic polymorphisms with treatment outcomes of PBC including overall response rate (ORR), overall survival (OS) and progression-free survival (PFS) were determined by analyzing the relative risk (RR), hazard ration (HR), corresponding 95% confidence interval (CI)...
July 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28702146/are-polymorphisms-in-mtrr-a66g-and-mthfr-c677t-genes-associated-with-congenital-heart-diseases-in-iranian-population
#12
Noormohammad Noori, Ebrahim Miri-Moghaddam, Asieh Dejkam, Yasman Garmie, Ali Bazi
BACKGROUND: The 5, 10-methyleneterahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) are two essential enzymes involved in folate metabolism. The relationship between genetic polymorphisms and congenital heart defects (CHDs) is inconsistent. Our aim was to investigate the association between two well-known polymorphisms of MTHFR and MTRR genes, C677T and A66G, respectively, and CHDs in Iranian patients. METHODS: We enrolled 74 patients with ventricular septal defect (VSD) and 79 with tetralogy of fallot (TOF) along with 147 healthy controls...
2017: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/28700981/folate-metabolism-genetic-polymorphisms-and-meningioma-and-glioma-susceptibility-in-adults
#13
Dongming Chen, Jun Dong, Ying Huang, Feng Gao, Xiaopeng Yang, Xianglun Gong, Xiaochen Lv, Chenghao Chu, Yonggang Wu, Yong Zheng
Polymorphic variants of genes involved in folate metabolism are implicated in the susceptibility to meningioma and glioma, but the results from published articles are controversial and inconclusive. Therefore, we performed this meta-analysis including all studies available to evaluate the relationship between folate metabolism genetic polymorphisms and the susceptibility to meningioma and glioma in adults. We searched the literature in PubMed, EMBASE and Cochrane Central Library for relevant articles published up to August 2016...
July 4, 2017: Oncotarget
https://www.readbyqxmd.com/read/28696419/associations-between-the-c677t-and-a1298c-polymorphisms-of-mthfr-and-the-toxicity-of-methotrexate-in-childhood-malignancies-a-meta-analysis
#14
C Zhu, Y W Liu, S Z Wang, X L Li, X L Nie, X T Yu, L B Zhao, X L Wang
As a common chemotherapy drug, methotrexate (MTX) has achieved remarkable clinical success. However, high inter-individual variability and unpredictable toxicity continue to challenge its use in clinical practices. Some studies suggest this variation is associated with a methylenetetrahydrofolate reductase (MTHFR) gene polymorphism, but results remain unclear. In this meta-analysis, we include 14 studies that focus on MTHFR C677T and A1298C polymorphisms in pediatric patients with malignancy. We found significant associations of the MTHFR C677T polymorphism with hepatotoxicity (grade ⩾2; CC vs CT/TT: risk ratio (RR): 0...
July 11, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28685147/genotyping-the-high-altitude-mestizo-ecuadorian-population-affected-with-prostate-cancer
#15
REVIEW
Andrés López-Cortés, Alejandro Cabrera-Andrade, Carolina Salazar-Ruales, Ana Karina Zambrano, Santiago Guerrero, Patricia Guevara, Paola E Leone, César Paz-Y-Miño
Prostate cancer (PC) is the second most commonly diagnosed type of cancer in males with 1,114,072 new cases in 2015. The MTHFR enzyme acts in the folate metabolism, which is essential in methylation and synthesis of nucleic acids. MTHFR C677T alters homocysteine levels and folate assimilation associated with DNA damage. Androgens play essential roles in prostate growth. The SRD5A2 enzyme metabolizes testosterone and the V89L polymorphism reduces in vivo SRD5A2 activity. The androgen receptor gene codes for a three-domain protein that contains two polymorphic trinucleotide repeats (CAG, GGC)...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28678827/identifying-novel-genes-and-biological-processes-relevant-to-the-development-of-cancer-therapy-induced-mucositis-an-informative-gene-network-analysis
#16
Cielito C Reyes-Gibby, Stephanie C Melkonian, Jian Wang, Robert K Yu, Samuel A Shelburne, Charles Lu, Gary Brandon Gunn, Mark S Chambers, Ehab Y Hanna, Sai-Ching J Yeung, Sanjay Shete
Mucositis is a complex, dose-limiting toxicity of chemotherapy or radiotherapy that leads to painful mouth ulcers, difficulty eating or swallowing, gastrointestinal distress, and reduced quality of life for patients with cancer. Mucositis is most common for those undergoing high-dose chemotherapy and hematopoietic stem cell transplantation and for those being treated for malignancies of the head and neck. Treatment and management of mucositis remain challenging. It is expected that multiple genes are involved in the formation, severity, and persistence of mucositis...
2017: PloS One
https://www.readbyqxmd.com/read/28676804/simultaneous-downregulation-of-mthfr-and-comt-in-switchgrass-affects-plant-performance-and-induces-lesion-mimic-cell-death
#17
Sijia Liu, Chunxiang Fu, Jiqing Gou, Liang Sun, David Huhman, Yunwei Zhang, Zeng-Yu Wang
Switchgrass (Panicum virgatum) has been developed into a model lignocellulosic bioenergy crop. Downregulation of caffeic acid O-methyltransferase (COMT), a key enzyme in lignin biosynthesis, has been shown to alter lignification and increase biofuel yield in switchgrass. Methylenetetrahydrofolate reductase (MTHFR) mediates C1 metabolism and provides methyl units consumed by COMT. It was predicted that co-silencing of MTHFR and COMT would impact lignification even more than either of the single genes. However, our results showed that strong downregulation of MTHFR in a COMT-deficient background led to altered plant growth and development, but no significant change in lignin content or composition was found when compared with COMT plants...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28671236/vitamin-b-supplementation-what-s-the-right-choice-for-your-patients
#18
Laura G Leahy
As many patients turn to vitamins and supplements to enhance energy, relieve fatigue, or generally feel better, it is important to understand the connection between the B vitamins and psychiatric symptomatology. Vitamins B6, B8, and B12 have been shown not only to reduce psychiatric symptoms but also shorten the duration of illness. Vitamin B9, also known as folate or folic acid, has also been associated with psychiatric symptoms. However, when patients lack a specific genetic enzyme, which converts folate/folic acid to its most usable form, L-methylfolate, the neuroprotective and neuropsychiatric benefits are lost...
July 1, 2017: Journal of Psychosocial Nursing and Mental Health Services
https://www.readbyqxmd.com/read/28657672/genetic-variants-in-3-utrs-of-mthfr-in-the-pregnancies-complicated-with-preeclampsia-and-bioinformatics-analysis
#19
Abbas Mohammadpour-Gharehbagh, Saeedeh Salimi, Farshid Keshavarzi, Foozieh Saeidian, Mahdieh Mousavi, Batool Teimoori, Maryam Esmaeilipour, Mojgan Mokhtari
Preeclampsia (PE) as a pregnancy-specific disorder is the major cause of mortality and morbidity of mothers and fetuses. This study attempts to investigate the possible association between the 2572C > A (rs4846049) and 4869C > G (rs1537514) polymorphisms in the 3'- untranslated region of MTHFR gene and the risk of PE. A total of 198 patients diagnosed with PE and 171 unrelated, age matched healthy pregnant women, were recruited for this case-control study. The MTHFR 2572C > A and 4869C > G genotyping was performed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method...
June 28, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28646637/ts-gene-polymorphisms-correlate-with-susceptibility-to-acute-lymphocytic-leukemia-in-children
#20
Runyin Zou, Xiangling He, Yanpeng Wu, Xin Tian, Yalan You, Mincui Zheng, Wanli Li, Hui Zou, Hua Liu, Xiujuan Zhu, Chengguang Zhu
BACKGROUND Acute lymphocytic leukemia (ALL) in children is a clonal disease of bone marrow hematopoietic stem cells. This study aimed to explore the associations between MTHFR or TS genetic polymorphisms and susceptibility to acute lymphocytic leukemia (ALL) in children. MATERIAL AND METHODS This case-control study included 79 ALL patients (case group) and 102 non-ALL patients (control group). Post-PCR genomic DNA sequencing revealed MTHFR C677T and MTHFR A1298C genotypes and TS polymorphisms. The χ² test was used to compare differences in MTHFR and TS polymorphisms (including genotypic and allelic distributions) between groups...
June 24, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
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