The frequency of DISC1 Leu607Phe gene polymorphism in schizophrenia patients at Dr. Soetomo General Hospital Surabaya

Abstract

Schizophrenia is a common health problem in the world, including in Indonesia. Polymorphism of gene disrupted in schizophrenia 1 (DISC1) Leu 607 Phe is allegedly related to the predisposition to schizophrenia. However, studies on the relationship between polymorphism of DISC1 Leu 607 Phe and schizophrenia in various etnics provided different results. The purpose of this study was to determine the frequency of DISC1 Leu 607 Phe gene polymorphism and its association with treatment response in patients with schizophrenia at Department of Psychiatry, Dr. Soetomo General Hospital Surabaya. In this study, the number of male patients with schizophrenia was more than that of the female patients. The mean age of male patients with schizophenia was lower than that of the female patients. Schizophrenia patients were primarily came from Javanese ethnic with positive and negative symptom score (PANSS) lower in male patients than that in the female patients. In conclusion, no DISC1 gene polymorphism at codon 607 is observed in schizophrenia patients at Dr. Soetomo General Hospital Surabaya, but the G nucleotide variation at the number 196.339 in intron regions is found instead. ABSTRAK Skizofrenia adalah masalah kesehatan umum di dunia termasuk di Indonesia. Adanya polimorfisme gen skizoprenia 1 (DISC1) Leu 607 Phe diduga berkaitan dengan predisposisi skizofrenia. Namun demikian, berbagai penelitian yang menghubungkan polimorfisme gen DISC 1 Leu 607 Phe dan skizofrenia pada berbagai etnik memberikan hasil yang berbeda. Penelitian ini bertujuan menentukan frekuensi gen DISC 1 Leu 607 Phe dan hubungannya dengan respon pengobatan pasien skizofrenia di Departemen Psikiatri, Rumah Sakit Umum Dr. Soetomo, Surabaya. Dalam penelitian ini jumlah pasien pria lebih banyak dari pada wanita. Rerata umur pasien pria lebih rendah dari pada pasien wanita. Pasien skizofrenia umumnya dari suku Jawa dengan nilai symptom negatif dan posistif lebih rendah pada pria diabndingkan wanita. Dapat disimpulkan, tidak ditemukan polimorfisme gen DISC1 pada kodon 607 pada psien skizofrenia di Rumah Sakit Umum Dr. Soetomo, Surabaya, namum ditemukan variasi nukleotida G pada bilangan 196.339 di daerah intron.