Annotation Detail

Information
Associated Genes
MEPE
Associated Variants
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 )
PON2 p.Ser311Cys (p.S311C) ( ENST00000222572.8, ENST00000433091.6, ENST00000633192.1, ENST00000633531.1 )
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 )
PON2 p.Ser311Cys (p.S311C) ( ENST00000222572.8, ENST00000433091.6, ENST00000633192.1, ENST00000633531.1 )
Associated Disease
First myocardial infarction
Source Database
DisGeNET
Description
We evaluated the influence of 2 polymorphisms within PON1 (192 Gln/ Arg) and PON2 (311 Ser/Cys) genes in 407 young Poles: 273 patients who experienced a first myocardial infarction (MI) under the age of 45 (study group) and 134 healthy volunteers (control group) with a HEART Score < or =2 (low risk).
Pubmed
19939821
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Year of publication
2010
Drugs