Relationship of Genetic Polymorphism (Intronic SNP RS2606345 of CYP1A1) and Drug Response in North Indian Epileptic Patients & Controls

It is observed that many of the epilepsy patients fail to achieve good response to treatment, leading to increased risk of death and psychosocial consequences. Many hypotheses have been given regarding this variable response like variation in Drug metabolizing enzyme (DME). The role of one such DME i.e., CYP1A1, has been evaluated in this study which is known to metabolize estrogen into its various metabolites. Estrogen is observed to play a role in causing seizures interfering with normal brain function. One of its important SNP rs2606345 is observed to play a key role in seizure occurrence. The intronic SNP IVS1+606C>A shows no response to AEDs.

Author(s): Upadhyay C*, Das S and Mazumder A

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