Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR p.Glu474Ala (p.E474A)
(
ENST00000376592.6,
ENST00000641407.1,
ENST00000376590.9,
ENST00000423400.7,
ENST00000641820.1,
ENST00000376583.7,
ENST00000376585.6 )
MTHFR p.Glu474Ala (p.E474A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 ) - Associated Disease
- Diabetes Mellitus, Insulin-Dependent
- Source Database
- DisGeNET
- Description
- The objectives of this study were: to determine plasma total homocysteine tHcy levels and the prevalence of hyperhomocysteinemia in children with type 1 diabetes, to determine correlates of plasma tHcy levels with nutritional factor such as serum folic acid and vitamin B12 levels, genetic factors as methylenetetrahydrofolate reductase MTHFR gene polymorphism (C677T and A1298C), to attempt to identify possible dependencies between tHcy and the degree of metabolic control, the duration of the disease and presence of complications, and also to determine the relationship between other coronary risk factors.
- Pubmed
- 16401615
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0152879593599334
- Year of publication
- 2006
Drugs