Annotation Detail

Information
Associated Genes
CYP3A4
Associated Variants
ROS1 p.Ser2229Cys (p.S2229C) ( ENST00000368507.8, ENST00000368508.7 )
CYP3A4 p.Ile118Phe (p.I118F) ( ENST00000336411.7, ENST00000354593.6, ENST00000651514.1, ENST00000652018.1 )
CYP3A4 p.Ile118Val (p.I118V) ( ENST00000336411.7, ENST00000354593.6, ENST00000651514.1, ENST00000652018.1 )
ROS1 p.Ser2229Cys (p.S2229C) ( ENST00000368507.8, ENST00000368508.7 )
CYP3A4 p.Ile118Phe (p.I118F) ( ENST00000336411.7, ENST00000354593.6, ENST00000651514.1, ENST00000652018.1 )
CYP3A4 p.Ile118Val (p.I118V) ( ENST00000336411.7, ENST00000354593.6, ENST00000651514.1, ENST00000652018.1 )
Associated Disease
Hypertensive disease
Source Database
DisGeNET
Description
Evaluation of genotype distributions by the Chi-square test and subsequent multivariable logistic regression analysis with adjustment for age, sex, body mass index, smoking status, and the prevalence of diabetes mellitus and hypercholesterolemia revealed that the -14C-->T polymorphism of ABCA1, the C-->G (Ser2229Cys) polymorphism of ROS1, the C-->T (Asn591Asn) polymorphism of LDLR, the 13989A-->G (Ile118Val) polymorphism of CYP3A4, the C-->G and A-->C polymorphisms of ADIPOR1, and the -519A-->G polymorphism of MMP1 were significantly (P<0.05) associated with the prevalence of hypertension.
Pubmed
18097620
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00845830529620761
Year of publication
2008
Drugs