American Journal of Medicine and Medical Sciences 2019, 9(10): 396-400 DOI: 10.5923/j.ajmms.20190910.09 Research of Polymorfic Locus (430 C/T) of CYP2c9/*2 Gene Distribution Frequencies among Patients with Epilepsy Nodira Miratalievna Tuychibaeva 1,* , Parakhat Rustamovna Alimkhodzhaeva 1 , Kodirjon Tuhtabaevich Boboev 2 1 Department of Nervous Diseases, Tashkent Medical Academy, Tashkent, Uzbekistan 2 Department of Molecular Medicine and Cell Technologies, Scientific Research Institute of Hematology and Blood Transfusion of the Ministry of Health of the Republic of Uzbekistan, Tashkent, Uzbekistan Abstract The aim of the study was to establish the association of polymorphism (430 C/T) of the CYP2C9/*2 gene with the risk of developing pharmacoresistant epilepsy. The study included patients with pharmacoresistant and controlled forms of epilepsy. There was a tendency to associate the T allele and the heterozygous C/T genotype with the pharmacoresistant form of epilepsy. Keywords Polymorphism (430 C/T), CYP2C9/*2 gene, Pharmacoresistant epilepsy, Allele, Genotype 1. Introduction The problem of treating a pharmacoresistant form of epilepsy is the subject of a study by various authors [4a], but so far an effective method of treatment and prediction of this pathology has not been found. The basis of the treatment of epilepsy is a long-term lifelong intake of antiepileptic drugs [3]. The criterion of effective antiepileptic therapy can be considered the complete absence or minimization of side effects and complications of therapy [1,2,12,13]. One of the most effective ways to improve drug therapy is a personalized approach to treatment, requiring the study of the molecular genetic basis of the disease. As you know, one of the key roles in drug metabolism is played by cytochrome P450 [6,11,14,18,17]. In this regard, the study of the cytochrome P450 2C9 gene (CYP2C9) is of considerable interest to researchers, in which polymorphic changes are attributed to the development of undesirable complications against the background of pharmacotherapy for epilepsy and, inter alia, when taking valproic acid [8,5,9,10,15,19,21]. In this regard, the study of one of the poorly studied polymorphisms (430 C/T) of the CYP2C9/*2 gene is of * Corresponding author: alteam2201@gmail.com (Nodira Miratalievna Tuychibaeva) Published online at http://journal.sapub.org/ajmms Copyright © 2019 The Author(s). Published by Scientific & Academic Publishing This work is licensed under the Creative Commons Attribution International License (CC BY). http://creativecommons.org/licenses/by/4.0/ interest for studying the etiopathogenetic basis of pharmacoresistant epilepsy [7]. 2. Main Body 2.1. The Purpose of Our Research The purpose of this study was to establish the association of polymorphism (430 C/T) of the CYP2C9/*2 gene and the risk of developing pharmacoresistant epilepsy. 2.2. Material and Methods of Study The study included a total of 382 subjects, including the main group consisting of 124 people, including 77 patients with pharmacoresistant epilepsy (1a-subgroup) and 47 patients with controlled epilepsy (1b-subgroup). The control group consisted of 134 healthy individuals. The diagnosis was established on the basis of clinical and anamnestic examination and laboratory studies. In patients with an established diagnosis in the main group and conditionally healthy individuals in the control group, a study was made of the distribution of polymorphic locus (430 C/T) in the CYP2C9/*2 gene. DNA was isolated from venous blood using a DNA sorb and “Ribo-Sorb” kit (AmpliSens®, Russia). The concentration and purity of the isolated DNA was determined on a NanoDrop 2000 instrument (USA). Genotyping of polymorphism (430 C/T) in the CYP2C9/*2 gene was performed by PCR-RFLP using an Applied Biosystems 2720 instrument.