rs3758581
This is a protein-altering variant in the CYP2C19 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Genetic Variants Associated With Phenytoin-Related Severe Cutaneous Adverse ReactionsAssociationN=4,268Wen-Hung Chung et al.(2014)· JAMA
Genome-wide association study and replication analysis identified CYP2C gene variants, particularly the missense variant rs1057910 (CYP2C9*3, Ile359Leu), as strongly associated with phenytoin-related severe cutaneous adverse reactions (SJS/TEN/DRESS) across Taiwan, Japan, and Malaysia populations. The CYP2C9*3 variant showed an overall odds ratio of 11 (95% CI, 6.2-18; P < 0.00001) in meta-analysis of three populations and is known to reduce drug clearance. A cluster of 16 SNPs in CYP2C genes at 10q23.33 reached genome-wide significance.
About CYP2C19
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]
View all CYP2C19 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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