نتایج جستجو برای: a1298c mutation

تعداد نتایج: 291881  

2017
Kevin Cho Zubair M Amin Jie An Kerry Anne Rambaran Tyler B Johnson Saeed K Alzghari

Major depressive disorder (MDD) is a disorder that carries significant psychosocial and economic implications. Research efforts have focused on identifying biomarkers that can aid in the prediction, diagnosis, and efficacious treatment of MDD. Most of this focus has been placed on a polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene, C677T. MTHFR C677T is screened during MDD d...

2016
Angie M.S. Tosson Khalda S. Amr Mohamed B. Taher

Objectives: Down syndrome (DS) may be associated with congenital heart defects (CHD). Folate-metabolizing genes have been suspected as risk factors in DS and in CHD. We investigated the role of methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and methionine synthase (MTR) A2756G polymorphism as risk factors for CHD in DS offspring. Material and Methods: This study incl...

Journal: :Haematologica 2004
Patrizia Chiusolo Giovanni Reddiconto Giuseppe Cimino Simona Sica Alessia Fiorini Giuliana Farina Antonella Vitale Federica Sorà Luca Laurenti Francesco Bartolozzi Paola Fazi Franco Mandelli Giuseppe Leone

BACKGROUND AND OBJECTIVES Methylenetetrahydrofolate reductase (MTHFR) is one of the enzymes involved in folate metabolism and DNA methylation and synthesis. Some genotypes of this highly polymorphic enzyme are associated with decreased activity. Previous studies have suggested that individuals with the MTHFR 677TT, 1298AC and 1298CC have a lower risk of adult acute lymphoblastic leukemia (ALL)....

2012
Abdelmajid Eloualid Omar Abidi Majida Charif Brahim El houate Houda Benrahma Noureddine Louanjli Elbakkay Chadli Maria Ajjemami Abdelhamid Barakat Anu Bashamboo Ken McElreavey Houria Rhaissi Hassan Rouba

The methylenetetrahydrofolate reductase (MTHFR) gene is one of the main regulatory enzymes involved in folate metabolism, DNA synthesis and remethylation reactions. The influence of MTHFR variants on male infertility is not completely understood. The objective of this study was to analyze the distribution of the MTHFR C677T and A1298C variants using PCR-Restriction Fragment Length Polymorphism ...

2017
Kyu Ri Hwang Young Min Choi Jin Ju Kim Sung Ki Lee Kwang Moon Yang Eun Chan Paik Hyeon Jeong Jeong Jong Kwan Jun Sang Ho Yoon Min A Hong

The balance between coagulation and fibrinolysis is an essential part in early pregnancy. Mutations in methylenetetrahydrofolate reductase (MTHFR) gene lead to decreased activity of the enzyme and hyperhomocysteinemia, which then induces platelet aggregation by promoting endothelial oxidative damage, possibly resulting in adverse effect on maintenance of pregnancy. We investigated the role of M...

2012
Ali Sazci Mavi Deniz Ozel Ergul Emel Halil Atilla Idrisoglu

Studies have revealed that elevated homocysteine levels can cause damage to motor neurons through multiple neurotoxic mechanisms, thus leading to the pathogenesis of amyotrophic lateral sclerosis (ALS). One way by which homocysteine levels are increased in the body is the consequence of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms. Therefore, to address this question, we studi...

Journal: :Heart, lung & circulation 2014
Chia-Sheng Chao Jeng Wei Hurng-Wern Huang Shyh-Chyun Yang

BACKGROUND Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C gene polymorphisms are associated with the risk of patent ductus arteriosus (PDA) congenital heart defects. This study aimed to determine the association of these polymorphisms in patients with isolated PDA and in non-PDA patients group without congenital heart disease. METHODS This retrospective case-controlled study was...

Journal: :Cancer genomics & proteomics 2009
Chiu-Shong Liu Chia-Wen Tsai Te-Chun Hsia Rou-Fen Wang Chin-Jung Liu Liang-Wen Hang Su-Yin Chiang Chung-Hsing Wang Ru-Yin Tsai Cheng-Chieh Lin Da-Tian Bau

UNLABELLED The aim of this study was to evaluate the association and interaction of genotypic polymorphisms in methylenetetrahydrofolate reductase (MTHFR) and environmental factors with lung cancer in Taiwan. Two well-known polymorphic variants of MTHFR, C677T (rs1801133) and A1298C (rs1801131), were analyzed in association with lung cancer susceptibility, and discussed their joint effects with...

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2004
Mine S Cicek Nora L Nock Li Li David V Conti Graham Casey John S Witte

Previous reports indicate that polymorphisms in the MTHFR gene play a role in cancer development, but their potential impact on prostate cancer has not been well studied. Here, we evaluate the association between two MTHFR polymorphisms, C677T and A1298C, and prostate cancer risk and aggressiveness in a moderately large family-based case-control study (439 cases and 479 sibling controls). Among...

2014
Anna-Liisa Lorenz Tiina Kahre Evelin Mihailov Tiit Nikopensius Andres Metspalu Anneli Kolk

Introduction: Women have been reported to have a higher risk for migraine. The pathogenesis of migraine is known to be related to genetic risk factors such as the presence of common polymorphisms C677T (rs1801133) and A1298C (rs1801131) in the MTHFR gene. The aim of the study was to examine the role of these two MTHFR polymorphisms as risk factors for pediatric migraine and examine the gender-s...

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