Profil Genetik Polimorfisme CYP3A4*4, *18B, dan *22 pada Kelompok Etnis Batak Toba, Melayu, dan Nias

Abstract

CYP3A4 is an important isoform of the CYP450 enzyme that participates in drug metabolism, as well as the major CYP3A isoform in the human liver and small intestine. However, CYP3A4 shows the greatest inter-individual variability when compared to other CYP isoforms. One of the main causes of such variability is the variation of the CYP3A4 gene (presence of the star allele). Previous studies have revealed a high prevalence of certain CYP3A4 star alleles in certain ethnicities, while other ethnicities may harbor other star alleles. North Sumatra is home to more than ten different ethnic groups. Since ethnicity can affect CYP3A4 genetic variation, it is important to do a study on three of these groups: the Toba Batak, the Malay, and the Nias. The goal of this study is to find out the pharmacogenetic profile of CYP3A4 based on these ethnic groups. This is observational research with a descriptive study design. The number of samples was 90 subjects, and blood was taken from a vein, which was then subjected to DNA isolation. Polymorphisms of CYP3A4*4, *18B, and *22 were performed using the PCR-RFLP protocol with BsmAI, RsaI, and BseYI enzymes respectively. DNA isolation and PCR-RFLP examination were carried out at the Integrated Laboratory of the faculty of medicine, USU. The results showed that in the CYP3A4*18B analysis, the heterozygous genotype was the majority genotype with 42 subjects (46.67%). 33 subjects (36.67%) and 15 subjects (16.67%), respectively, had the homozygous wild-type and homozygous CYP3A4*18B genotypes. The Malay ethnic group also had the highest CYP3A4*18B allele frequency (48.33%). While in the analysis of CYP3A4*4 and *22, no such polymorphisms were found in the three ethnic groups. The results indicate that PCR-RFLP procedure can be used for screening purposes for CYP3A4*4, *18B, and *22. Using this assay, we found that CYP3A4*18B frequency in North Sumatra was similar to the result reported by a previous study in Malaysia.