rs2472304
This is a intron variant variant in the CYP1A2 gene.
▶Research that mentions this SNP (2)
▶Polymorphism in alpha 2A adrenergic receptor gene is associated with sialorrhea in schizophrenia patients on clozapine treatmentAssociationN=237Anssi Solismaa et al.(2014)· Human Psychopharmacology: Clinical and Experimental
This dissertation examined pharmacogenetic associations with clozapine adverse effects in 237 Finnish schizophrenia patients. ADRA2A rs1800544 was associated with clozapine-induced sialorrhea (OR 2.13, 95% CI: 1.17-3.88, p=0.013). Eight HNMT SNPs in complete linkage disequilibrium (r²=1) were associated with sedation. CHRM3 rs685548 and weighted genetic risk scores from HTR4, HTR7, TPH1, CHRM2, ABCB1, and OPRM1 were associated with anticholinergic symptoms.
▶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.
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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