Annotation Detail

Information
Associated Genes
PPARA
Associated Variants
PPARA p.Leu162Val (p.L162V) ( ENST00000402126.2, ENST00000407236.6 )
PPARA p.Leu162Val (p.L162V) ( ENST00000402126.2, ENST00000407236.6 )
Associated Disease
diabetes mellitus
Source Database
DisGeNET
Description
Overall, the PPARalpha haplotype signficantly influenced age at diagnosis (P = 0.027), with the C-L-C and C-V-C haplotypes (intron 1-L162V-intron 7) accelerating onset of diabetes by 5.9 (P = 0.02) and 10 (P = 0.03) years, respectively, as compared with the common A-L-G haplotype, and was associated with an odds ratio for early-onset diabetes (age at diagnosis </=45 years) of 3.75 (95% CI 1.65-8.56, P = 0.002).
Pubmed
15677519
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0162304304980258
Year of publication
2005
Drugs