Annotation Detail

Information
Associated Genes
APOE
Associated Variants
ENSG00000264813 p.Thr342Met (p.T342M), ACE p.Thr916Met (p.T916M) ( ENST00000290866.10, ENST00000428043.5, ENST00000413513.7, ENST00000290863.10 )
ENSG00000264813 p.Thr342Met (p.T342M), ACE p.Thr916Met (p.T916M) ( ENST00000290863.10, ENST00000290866.10, ENST00000413513.7, ENST00000428043.5 )
Associated Disease
Ischemic stroke
Source Database
DisGeNET
Description
Of the eight candidate genes studied, three were associated with ischaemic stroke: the angiotensin I converting enzyme (ACE) insertion/deletion (I/D) polymorphism with a mean OR of 1.90 (95% CI 1.23-2.93) in the Chinese and 1.74 (95% CI 0.88-3.42) in the Japanese; the summary OR for the C677T variant of 5,10-methylenetetrahydrofolate reductase (MTHFR) was 1.18 (95% CI 0.90-1.56) in Chinese and 1.34 (95% CI 0.87-2.06) in Koreans; and the pooled OR for the apolipoprotein E (APOE) gene was 2.18 (95% CI 1.52-3.13) in Chinese and 1.51 (95% CI 0.93-2.45) in Japanese.
Pubmed
17455988
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0179587708190182
Year of publication
2007
Drugs