Publication
Genetic contribution of CYP1A1 variant on treatment outcome in epilepsy patients: a functional and interethnic perspective
Publisher:
Springer Science and Business Media LLC
Date:
08-03-2016
DOI:
10.1038/TPJ.2016.1
Abstract: CYP1A1 gene is involved in estrogen metabolism, and previously, we have reported association of variant rs2606345 with altered anti-epileptic drugs (AED) response in North Indian women with epilepsy (WWE). The present study aims to replicate the pharmacogenetic association, perform functional characterization and study its distribution within ethnically erse Indian population. The variant was genotyped in 351 patients to assess the pharmacogenetic association and 552 healthy in iduals belonging to 24 different ethnic groups to examine the distribution in Indian population. We observed significant overrepresentation of 'A' allele and 'AA' genotype in poor responders in WWE at Bonferroni-corrected significance levels. The recessive allele was found to lower the promoter activity by ~70-80% which was further substantiated by thermally less stable hairpin formed by it (ΔT