Annotation Detail
Information
- Associated Genes
- ACE
- Associated Variants
-
ENSG00000264813 p.Thr342Met (p.T342M), ACE p.Thr916Met (p.T916M)
(
ENST00000290866.10,
ENST00000428043.5,
ENST00000413513.7,
ENST00000290863.10 )
MTHFR p.Glu474Ala (p.E474A) ( ENST00000376592.6, ENST00000641407.1, ENST00000376590.9, ENST00000423400.7, ENST00000641820.1, ENST00000376583.7, ENST00000376585.6 )
ENSG00000264813 p.Thr342Met (p.T342M), ACE p.Thr916Met (p.T916M) ( ENST00000290863.10, ENST00000290866.10, ENST00000413513.7, ENST00000428043.5 )
MTHFR p.Glu474Ala (p.E474A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 ) - Associated Disease
- Microalbuminuria
- Source Database
- DisGeNET
- Description
- Analysis of the association of studied MTHFR C677T, A1298C and ACE I/D polymorphisms with albuminuria showed that the MTHFR 677 T polymorphism, in the recessive and dominant models, was a risk factor for both micro and macroalbuminuria, while the ACE DD mutant genotype was a risk factor for microalbuminuria and the MTHFR 1298C in the dominant model only was a risk factor for macroalbuminuria.
- Pubmed
- 22554825
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00651460492992728
- Year of publication
- 2012
Drugs