MTHFR C677T gene mutation as a risk factor for arterial stroke: A hospital based study. Eur J Neurol 2005;12:40-4.R.V. Alluri, V. Mohan, S. Komandur, K. Chawda, J.R. Chaudhuri, Q. Hasan, MTHFR C677T gene mutation as a risk factor for arterial stroke: a hospital based study...
A common mutation (C677T), which results in high homocysteine and low plasma folate levels, has been associated with a thermolabile form of the MTHFR enzyme, therefore being a risk factor for cardiovascular diseases and neural tube defects (NTD) in the homozygous form (Frosst, 1995). Another...
2.C 677 T homozygous MTHFR mutation in 4 % , and oral contraceptive use in 22 %. 4%C677T纯合亚甲基四氢叶酸还原酶变异;22%使用口服避孕药. 3.Objective To evaluate the relationship between 5, 10 - Methylenetetrahydrofolate reductase ( MTHFR ) gene polymorphisms and colorectal cancer ( CRC )...
The MTHFR C677T (rs1801133) polymorphism is a missense mutation that causes the substitution of alanine to valine in 222th and 263th positions of the amino acid sequence of methylenetetrahydrofolate reductase (NADPH) which results in functional loss [1]. Homozygous TT genotype carriers for the ...
Background Stroke is a rare disorder in childhood; among its risk factors, C677T mutations in the methylenetetrahydrofolate reductase (MTHFR) gene with secondary hyperhomocysteinemia are considered.关键词: Stroke - Familial - MTHFR gene - C677T mutation - G80A RFC-1 mutation - Homocysteine DOI...
原发性高血压患者MTHFR基因C677T 多态性及血浆Hcy水平的变化 王林郭宏李玉明 579 论着 摘要目的:研究N5,N10一亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性及 血浆同型半胱氨酸 (Hcv)水平的改变与原发性高血压的关系.方法:对55例单纯收缩期高血压(ISH)和 50例非单纯收缩期高血压 (NISH)两组及46例健康对照...
However, the serum levels of vitamin B2 and B12 and the MTHFR C677T genotypes interact in ways which has a different effect on the EPL and ESCC risks. For the homozygous wild genotype CC subjects who have normal activity of MTHFR, high serum levels of vitamin B2 and B12 were significantly...
MTHFR Acronyms A gene on chromosome 1p36.3 that encodes an enzyme which converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Molecular pathology Defects in MTHFR cause methylenetetrahydrofolate reductase deficiency and increase su...
Because we inherit one copy of each gene from our mother and father, that means that for those that have the C677T mutation there are two possibilities. They can be: Heterozygous –having one copy of the C677T mutation and one normal copy Homozygous –having two copies of the C677T ...
The CT and TT genotypes of the C677T gene polymorphism exhibited substantial risks for having stroke disease [(OR 3.856; P ≤ 0.001); (OR 4.026; P ≤ 0.001), respectively]. The T allele was significantly more prevalent among patients compared to controls. (OR 2.517; (P = ...