Annotation Detail

Information
Associated Genes
CYP3A4
Associated Variants
CYP21A2 p.Val282Met (p.V282M) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Leu (p.V282L) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Leu (p.V282L) ( ENST00000435122.3, ENST00000644719.2 )
CYP3A5 c.219-237A>G ( ENST00000222982.8, ENST00000439761.3 )
CYP3A4 c.-392G>A
CYP21A2 p.Val282Met (p.V282M) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Leu (p.V282L) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Leu (p.V282L) ( ENST00000435122.3, ENST00000644719.2 )
CYP3A5 c.219-237A>G ( ENST00000222982.8, ENST00000439761.3 )
CYP3A4 c.-392G>A
Associated Disease
Hypertensive disease
Source Database
DisGeNET
Description
The CYP3A5 genotype was related with blood pressure in the general population, but the effect on the risk for hypertension in pregnancy has not been evaluated.We compared the allele and genotype frequencies of three functional SNPs in the CYP3A5 (rs776746), CYP3A4 (rs2740574), and CYP21A2 (rs6471) genes between pregnant women who developed hypertension (n = 250) or who remained normotensive (control group, n = 250).
Pubmed
20617557
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00845830529620761
Year of publication
2010
Drugs