Perbandingan Polimorfisme Catechol-O Methyltransferase VAL158 MET pada Orang dengan Skizofrenia Suku Batak

Abstract

Background: Genetic and epidemiological studies link environmental and genetic factors to the occurrence of schizophrenia. Schizophrenia is found in 24 million people in the world's population or 1:300 million people (0.32%). One of the genetic hypotheses for schizophrenia is catechol-O-methyltransferase (COMT) polymorphism, located on chromosome 22q11. One form of COMT polymorphism is single nucleotide polymorphism (SNP) rs4680 at position 158 of the M-form gene. Aim: To describe the demographic characteristics and comparison of alleles and genotypes of the catechol-omethyltransferase Val158Met polymorphism in bataknese people with schizophrenia compared to healthy batak control. Method: Cross sectional study of 400 subjects. It consisted of two groups: the Batak ODS case group and the Batak healthy control group. The Batak ODS case group was Batak ODS at the BLUD inpatient installation of the North Sumatra Province mental hospital and the Batak healthy control group were Batak ethnic donors who came to the Indonesian Red Cross in Medan. The assessment was carried out from October 2022 to March 2023. Sampling was carried out using non-probability sampling type consecutive sampling. In examining the COMT gene polymorphism, the Polymerase Chain Reaction – Restriction Fragment Length Polymorphism (PCR-RFLP) technique was carried out using ODS blood samples and healthy Batak controls. Result: The majority of subjects in the Batak ODS group and healthy control Batak ethnicity were men. In the Val158Met variant, the frequency of occurrence of the Val allele was higher in the control group 351 times and the Met allele was 89 times. The genotypic variants of the ODS group and the control Batak ethnicity did not appear to be very different where the respective frequencies of genotypic variation Val/Val had the highest variance. Conclusion: There is no relationship between the Val158Met genotype and risk factors for schizophrenia.