rs12767583

This is a intron variant variant in the CYP2C19 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

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Research that mentions this SNP (1)

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Interaction between genetic variants ofDLGAP3andSLC1A1Affecting the Risk of Atypical Antipsychotics‐Induced Obsessive–Compulsive Symptoms
AssociationN=91Seunghyong Ryu et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This proof-of-concept study examined polygenetic risk scores (PRS) in 91 clozapine-treated schizophrenia patients with obsessive-compulsive symptoms/disorder (OCS/OCD). OCS prevalence was 39.6% and OCD prevalence was 27.5%. A significant correlation was found between OCD occurrence and PRS for CLZ metabolism (p=0.010 at pd=0.001), though this did not survive multiple testing correction. OCS severity positively correlated with clozapine treatment duration and PANSS general psychopathology subscale scores, but no associations were found with PRS for OCD, schizophrenia, or cross-disorder phenotypes.

Traits studied:CLZ/NorCLZ ratioClozapine metabolismNorclozapine metabolismObsessive-compulsive disorderObsessive-compulsive symptomsSchizophrenia
PubMedDOIMetascience Observatory

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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