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Mthfr c/t

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https://www.readbyqxmd.com/read/29117460/maternal-folic-acid-use-during-pregnancy-mthfr-polymorphism-and-child-s-lung-function-and-asthma
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/28968218/association-of-c677t-polymorphism-rs1801133-in-mthfr-gene-with-depression
#7
V Rai
Depression is one of the mental disorders with a state of low mood and aversion to activities that exerts a negative effect on a person's thoughts and behavior. Genetic association studies on MTHFR C677T polymorphism and depression have been repeatedly performed over the last two decades, but results are inconsistent. The aim of the present study was to assess the relationship between MTHFR C677T polymorphism and depression by literature review and meta-analysis. Four electronic databases, PubMed, Google Scholar, Science direct and Springer Link were searched for case control articles focusing on MTHFR C677T polymorphism and the risk of depression...
July 31, 2017: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/28963520/interplay-between-3-utr-polymorphisms-in-the-methylenetetrahydrofolate-reductase-mthfr-gene-and-the-risk-of-ischemic-stroke
#8
Jung Oh Kim, Han Sung Park, Chang Soo Ryu, Jung-Won Shin, Jinkwon Kim, Seung Hun Oh, Ok Joon Kim, Nam Keun Kim
Stroke incidence is a multifactorial disease and especially hyperhomocysteinemia is associated with a higher risk of stroke. Previous studies have reported a folate metabolism disorder associated with the MTHFR gene. We investigated four single nucleotide polymorphisms in the MTHFR 3'-UTR [2572 C > A (rs4846049), 4869 C > G (rs1537514), 5488 C > T (rs3737967), and 6685 T > C (rs4846048)] to elucidate associations between ischemic stroke prevalence and prognosis. We examined 511 consecutive patients with ischemic stroke...
September 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28943344/polymorphisms-of-the-folate-metabolizing-enzymes-association-with-sle-susceptibility-and-in-silico-analysis
#9
Saeedeh Salimi, Farshid Keshavarzi, Abbas Mohammadpour-Gharehbagh, Mahdieh Moodi, Mahdieh Mousavi, Mohammad Karimian, Mahnaz Sandoughi
Systemic lupus erythematosus (SLE) is a typical autoimmune disorder with multiple organ involvement and unknown etiology. It has been shown that polymorphic variants of the genes encoding key enzymes of folate and methionine metabolism may influence DNA methylation. Genomic DNA was extracted from blood samples of 150 SLE patients and 160 controls, matching age, sex, and ethnicity. MTHFR rs1801133C>T and MTR rs1805087A>G polymorphisms were genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method...
September 21, 2017: Gene
https://www.readbyqxmd.com/read/28889200/prevalence-of-common-hereditary-risk-factors-for-thrombophilia-in-somalia-and-identification-of-a-novel-gln544arg-mutation-in-coagulation-factor-v
#10
Abshir Ali Abdi, Abdimajid Osman
Thrombophilia, commonly manifested as venous thromboembolism (VTE), is a worldwide concern but little is known on its genetic epidemiology in many parts of the globe particularly in the developing countries. Here we employed TaqMan genotyping and pyrosequencing to evaluate the prevalence of known common nucleotide polymorphisms associated with thrombophilia in a Somali population in the Puntland region of Somalia. We also employed next generation sequencing (NGS) to investigate other genetic variants in a Somali patient with deep venous thrombosis (DVT)...
November 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28887233/methotrexate-pharmacogenetics-in-uruguayan-adults-with-hematological-malignant-diseases
#11
Andrea Giletti, Marcelo Vital, Mariana Lorenzo, Patricia Cardozo, Gabriel Borelli, Raúl Gabus, Lem Martínez, Lilian Díaz, Rodrigo Assar, María Noel Rodriguez, Patricia Esperón
BACKGROUND: Individual variability is among the causes of toxicity and interruption of treatment in acute lymphoblastic leukemia (ALL) and severe non-Hodgkin lymphoma (NHL) patients under protocols including Methotrexate (MTX): 2,4-diamino-N10-methyl propyl-glutamic acid. METHODS: 41 Uruguayan patients were recruited. Gene polymorphisms involved in MTX pathway were analyzed and their association with treatment toxicities and outcome was evaluated. RESULTS: Genotype distribution and allele frequency were determined for SLC19A1 G80A, MTHFR C677T and A1298C, TYMS 28bp copy number variation, SLCO1B1 T521C, DHFR C-1610G/T, DHFR C-680A, DHFR A-317G and DHFR 19bp indel...
September 5, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28876333/folate-vitamin-b12-homocysteine-and-polymorphisms-in-folate-metabolizing-genes-in-children-with-congenital-heart-disease-and-their-mothers
#12
K E Elizabeth, S L Praveen, N R Preethi, V T Jissa, M R Pillai
BACKGROUND/OBJECTIVES: The objective of the study was to assess the role of variations in serum folate, vitamin B12, homocysteine and the presence of genetic polymorphisms as risk factors for congenital heart disease (CHD) in children. SUBJECTS/METHODS: A total of 32 children with CHD, and their mothers and 32 normal children and their mothers formed the study and control groups, respectively. Serum folate, vitamin B12 and homocysteine as well as genetic polymorphisms MTHFR C677→︀T, MTHFR A1298→︀C, MTR A2756→︀G and MTRR A66→︀G were assessed...
September 6, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28819944/contribution-of-inherited-thrombophilia-to-recurrent-miscarriage-in-the-polish-population
#13
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
#14
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/28760411/polymorphisms-of-mthfr-enos-ace-agt-apoe-pon1-pde4d-and-ischemic-stroke-meta-analysis
#15
Loo Keat Wei, Anthony Au, Saras Menon, Lyn R Griffiths, Cheah Wee Kooi, Looi Irene, Jiangyang Zhao, Chaeyoung Lee, Avdonina Maria Alekseevna, Muhammad Radzi Abdul Hassan, Zariah Abdul Aziz
INTRODUCTION: The association between ischemic stroke and genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR; 677C>T and 1298A>C), endothelial nitric oxide synthase (eNOS; -786T>C, +894G>T, and variable number tandem repeat [VNTR]), phosphodiesterase 4D (PDE4D; SNPs 83 and 87), angiotensin-converting enzyme (ACE) I/D, angiotensinogen (AGT) 235M>T, paraoxonase 1 (PON1) 192Q>R, and apolipoprotein E (ApoE) ε2ε3ε4 remains inconclusive. Therefore, this updated meta-analysis aimed to clarify the presumed influence of genetic polymorphisms on ischemic stroke by meta-analyzing the comprehensive coverage of all individual association studies...
November 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28758112/parental-genetic-variants-mthfr-677c-t-and-mtrr-66a-g-associated-differently-with-fetal-congenital-heart-defect
#16
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/28733526/investigation-of-methylenetetrahydrofolate-reductase-tagging-polymorphisms-with-colorectal-cancer-in-chinese-han-population
#17
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/28696419/associations-between-the-c677t-and-a1298c-polymorphisms-of-mthfr-and-the-toxicity-of-methotrexate-in-childhood-malignancies-a-meta-analysis
#18
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
#19
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/28641625/-effect-of-gstp1-and-mthfr-gene-polymorphism-on-side-effects-of-hd-mtx-in-all-children
#20
Fei Li, Dan-Dan Yin, Xiao-Lan Zhou, Jian-Mei Ma, Hong-Mei Guo, Li Meng
OBJECTIVE: To Study the effect of C677T and MTHFR gene polymorphism on side effects of HD-MTX in ALL children. METHODS: The gene polymorphism of C677T A303G and MTHFR C677T were detected by PCR in 98 ALL children from January 2014 to January 2016. The side effects during HD-MTX therapy were observed, and the relationship among GSTP1, MTHFR gene polymorphism and incidence of side effect of HD-MTX were analyzed. RESULTS: Among 98 ALL children, the gene variation was observed in 61 ALL children (62...
June 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
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