From The Genetic Mutation to The specific Pathologies: A Summary for The Future Perspective on Pharmacogenomic Salsabila Salma Zahrah1, Ratna Wijayatri1, Imron Wahyu Hidayat1, Alfian Syarifuddin1, Setiyo Budi Santoso1,a
1Department of Pharmacy, Universitas Muhammadiyah Magelang, Indonesia
Abstract
Translational bioinformatics has been new science that uses to transform huge volumes of molecular targets into therapeutic therapies. Bioinformatical approach pinpoint a better understanding of disease processes by combining genetic, phenomic, and environmental data. Our summary integrate several explanations from diverse research were combined to construct pathways that depict the expression of gene mutations in driving a variety of diseases. The study involves literatures indexed by Scopus and Pub Med, the search uses a combination of the following keyword variants- ^HaploReg^ AND ^genomic^, ^HaploReg^ AND ^repurposing drug^. This study only used original articles in english which were peer reviewed journals published during 2022. Thus, the screening results of library sources were narrowed to 12 original articles papers that met the inclusion criteria. Our review shows that atopic dermatitis due to polimorphism on locus CD07 and mutations in the null filaggrin gene in the type 2 T helper lymphocyte (Th2) signaling pathway. The mechanism of colorectal cancer was found on the miR-143/145 cluster to modulate KRAS signaling. Last the risk of gastric cancer due to rs12904 single nuceotide related to AG/GG genotype. Our findings give up new opportunities for the development of pharmacogenomic-based follow-up studies on racial variations that have not previously been studied.
