rs2069526
This is a intron variant variant in the CYP1A2 gene.
▶Research that mentions this SNP (3)
▶Influence of neurexin 1 (NRXN1) polymorphisms in clozapine responseReviewRenan P. Souza et al.(2010)· Human Psychopharmacology: Clinical and Experimental
This systematic review of 98 studies examined biological predictors of clozapine response in treatment-resistant schizophrenia patients. Of 379 different gene variants investigated across 70 genetic studies, only three variants (DRD3 Ser9Gly rs6280, HTR2A His452Tyr, and GNB3 C825T) achieved independent replication. Non-genetic predictors included higher prefrontal cortical volumes and lower HVA:5-HIAA ratio in cerebrospinal fluid.
▶Induction of CYP1A2 by heavy coffee consumption is associated with the CYP1A2 −163C>A polymorphismAssociationN=178Natasa Djordjevic et al.(2010)· European Journal of Clinical Pharmacology
This study investigates the association of CYP1A2 genetic polymorphisms with heavy coffee consumption's effect on CYP1A2 enzyme activity in Serbian (n=64) and Swedish (n=114) populations. The key finding is that the CYP1A2 -163C>A polymorphism (rs762551) shows a significant increasing effect on CYP1A2 inducibility by heavy coffee consumption (Serbian P=0.022, Swedish P=0.016), with the highest enzyme activity in -163 A/A carriers. This polymorphism explains 22% and 14% of phenotypic variability in Serbian and Swedish heavy coffee consumers, respectively.
▶Lack of association of GPX1 and MnSOD genes with symptom severity and response to clozapine treatment in schizophrenia subjectsReviewRenan P. Souza et al.(2009)· Human Psychopharmacology: Clinical and Experimental
A systematic review of 98 studies investigating biological predictors of clozapine response in treatment-resistant schizophrenia. Of 70 genetic studies examining 379 variants, only three genetic variants have independently replicated findings: DRD3 Ser9Gly (rs6280), HTR2A His452Tyr, and GNB3 C825T (rs5442/rs5443). Non-genetic predictors include higher prefrontal cortical structural integrity and activity, and lower HVA:5-HIAA ratio in cerebrospinal fluid.
About CYP1A2
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. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. [provided by RefSeq, Jul 2008]
View all CYP1A2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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