Annotation Detail

Information
Associated Genes
CPB2
Associated Variants
CPB2 p.Ala169Thr (p.A169T) ( ENST00000674625.1, ENST00000181383.10, ENST00000439329.5 )
ARHGAP30 p.Arg1085= (p.R1085=) ( ENST00000368015.1, ENST00000368013.8, ENST00000368016.7 )
IL6 c.324+147C>G ( ENST00000485300.1, ENST00000407492.5, ENST00000401630.7, ENST00000401651.5, ENST00000406575.1, ENST00000258743.10, ENST00000404625.5 )
CPB2 p.Ala169Thr (p.A169T) ( ENST00000181383.10, ENST00000439329.5, ENST00000674625.1 )
ARHGAP30 p.Arg1085= (p.R1085=) ( ENST00000368013.8, ENST00000368015.1, ENST00000368016.7 )
IL6 c.324+147C>G ( ENST00000258743.10, ENST00000401630.7, ENST00000401651.5, ENST00000404625.5, ENST00000406575.1, ENST00000407492.5, ENST00000485300.1 )
Associated Disease
Coronary heart disease
Source Database
DisGeNET
Description
In interaction analysis we found statistical evidence of variant-gender interaction conferring risk of CHD and CVD: rs3742264 in the carboxypeptidase B2 gene, p(interaction) = 0.009 for CHD, and rs2774279 in the upstream stimulatory factor 1 gene, p(interaction) = 0.007 for CHD and CVD, showed strong association in women but not in men, while rs2069840 in interleukin 6 gene, p(interaction) = 0.004 for CVD, showed strong association in men but not in women (uncorrected p-values).
Pubmed
18974842
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00345279946692324
Year of publication
2008
Drugs