Conclusions: The C677T mutation of MTHFR gene is common in the Chinese population. MTHFR C677T gene polymorphism associated with a predisposition to increased plasma homocysteine levels may represent a genetic risk factor for diabetic nephropathy in Chinese type 2 diabetic patients....
Stroke is a major global disability cause, and genetic variables for multifactorial illnesses like stroke are crucial for precision medicine. The purpose of this study is to see if genetic variants in the MTHFR gene are associated with a higher risk of i
The objective of the present study is to evaluate the associative role of MTHFR gene polymorphism and progesterone receptor (PR) gene mutation (PROGINS) in susceptibility to PTD, negative pregnancy outcome and low birth weights (LBW) in Northeast Indian population. Methods A total of 209 PTD ...
The 677C -> T variant of MTHFR is the major genetic modifier of biomarkers of folate status in a young, healthy Irish population 来自 掌桥科研 喜欢 0 阅读量: 7 作者: Shane, BarryPangilinan, FaithMills, James L.Fan, RuzongGong, TingtingCropp, Cheryl D.Kim, YoonheeUeland, Per M....
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 ...
One cause liked to schizophrenia is low levels of folate acid and defective folate metabolism which mean the MTHFR gene mutation can lead to schizophrenia in some cases. MTHFR gene is situated toward the end of the short arm of chromosome 1. The protein assumes a focal part in folate ...
The aim of this study was to evaluate whether the cytosine-to-thymine mutation at base 677 of the methylenetetrahydrofolate reductase gene (MTHFR C677T), which has been associated with neural tube defects and congenital oral cleft, is al... C Marinho,I Alho,A Guerra,... - 《Revista Port...
(ALSP) is an ultra-rare condition characterized by mutations in a gene called Colony stimulating factor-1 receptor (CSF1R). The condition manifests initially with psychiatric and behavioral changes in patients followed by a rapid progression of dementia in the third or fourth decade of life. ...
However, an evident linkage between the polymorphic variants of the MTHFR gene and the in- creased risk of BC has not been clearly established. Func- tional relevance of rs1801133 has been confirmed by GWAS data about regulation of serum folate levels [https://www.ebi.ac.uk/gwas/variants/...
- 《Proceedings of the Nutrition Society》 被引量: 478发表: 2006年 A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. A common mutation in methylenetetrahydrofolate reductase (MTHFR), C677T, results in a thermolabile variant with ...