Annotation Detail
Information
- Associated Genes
- ACACB
- Associated Variants
-
ACACB c.2914-870G>A
(
ENST00000377848.7,
ENST00000338432.12,
ENST00000377854.9 )
ACACB c.2914-870G>A ( ENST00000338432.12, ENST00000377848.7, ENST00000377854.9 ) - Associated Disease
- Diabetic Nephropathy
- Source Database
- DisGeNET
- Description
- A large-scale genotyping analysis of gene-based single nucleotide polymorphisms (SNPs) in Japanese patients with type 2 diabetes identified the gene encoding acetyl-coenzyme A carboxylase beta (ACACB) as a candidate for a susceptibility to diabetic nephropathy; the landmark SNP was found in the intron 18 of ACACB (rs2268388: intron 18 +4139 C > T, p = 1.4x10(-6), odds ratio = 1.61, 95% confidence interval [CI]: 1.33-1.96).
- Pubmed
- 20168990
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2010
Drugs