GWENNY ICHSAN PRABOWO, NIM01141 701 7301 (2017) ANALISIS HUBUNGAN SINGLE NUCLEOTIDE POLYMORPHISM (SNP) Ser704Cys GEN DISC1 DAN Val158Met GEN COMT SERTA TINGKAT STRES OKSIDATIF DENGAN KEJADIAN DAN GEJALA KLINIS PADA PENDERITA SCHIZOPHRENIA KRONIS DI SURABAYA INDONESIA. Disertasi thesis, Universitas Airlangga.

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Abstract

Introduction: Schizophrenia is a health problem in the world, including in Indonesia and it is found in all levels of society and different geographical areas with lifetime prevalence about 1%. Mechanisms underlying schizophrenia are still not entirely clear. Factors to be implicated in schizophrenia are genetic factors, environmental factors and oxidative stress. Methods: This was an analytic observational study to analyze the association between SNP Ser704Cys of DISC1 gene, Val158Met of COMT gene and F2 isoprostane level with the incidence and clinical symptoms in chronic schizophrenic patients from Javanese ethnic. Design used in this study was case-control study. Results: Patients with chronic schizophrenia showed no differences in PANSS scores in all categories between mutant type and wild type in SNPs of DISC1 and COMT genes (p>0,05). In Javanese population the frequency of SNP Cys704Cys DISC1 gene was 6.7% (2/30) and SNP Met158Met COMT gene was also 6.7% (2/30). Catechol-O-Methyl Transferase showed the presence of mutant heterozygote C/G in the third nucleotide of codon 136 (no amino acid changes), which was at nucleotide number 21946 as much as 40% (12/30). There was also a variation in nucleotide T to A at the first nucleotide of codon 145 (sistein to serine substitution), nucleotide number 21971 as much as 3.3% (1/30). In chronic schizophrenia group, F2-isoprostane level was significantly higher than that in control group (p <0.05). There was no association each others between plasma F2 isoprostane, clinical symptoms, SNP Ser704Cys DISC1 and Val158Met COMT genes in chronic schizophrenia. Conclusions: SNP Ser704Cys DISC1 and Val158Met COMT genes in chronic schizophrenia were found in Javanese population. Plasma F2 isoprostane in chronic schizophrenia group was higher than that in control group. Plasma F2 isoprostane, clinical symptoms, SNP Ser704Cys DISC1 and Val158Met COMT genes in chronic schizophrenia had no association between each others.

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