From the Genetic Mutation to the Specific Pathologies

DOI

10.2991/978-2-38476-118-0_49How to use a DOI?

Keywords

Gene Mutation; Bioinformatic; HaploReg

Abstract

Translational bioinformatics has been a new science that uses to transform huge volumes of molecular targets into therapeutic therapies. The bioinformatical approach pinpoints a better understanding of disease processes by combining genetic, phenomic, and environmental data. Our summary integrates several explanations from diverse publications 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 in 2022. Thus, the screening results of library sources were narrowed to 10 original articles that met the inclusion criteria. Here in, we list 16 genes which have driven nine special diseases, two of which (JAK, CD207) encode atopic dermatitis, two genes trigger vitiligo (IFIH1, TICAM1), two genes role in multiple sclerosis (CD80, CD86), a pathway of three genes activate ankylosing spondylitis (HLA-B27-ERAP1), a gene link to breast cancer (EMSY), a gene associate with gastric cancer (MMP-7), two genes relate to colorectal cancer (miR-143/145, KRAS), three genes play the role in chronic prostatitis/chronic pelvic pain syndrome (IFNG, IFNGR1, AR), and a gene rule on arterial hypertension (TBX2). Last, our discovery provides new insight into the development of novel medications that act on specific druggable target genes that have not previously been investigated.

Copyright

© 2024 The Author(s)

Open Access

Open Access This chapter is licensed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/), which permits any noncommercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license and indicate if changes were made.

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TY  - CONF
AU  - Salsabila Salma Zahrah
AU  - Ratna Wijayatri
AU  - Imron Wahyu Hidayat
AU  - Alfian Syarifuddin
AU  - Setiyo Budi Santoso
PY  - 2023
DA  - 2023/10/10
TI  - From the Genetic Mutation to the Specific Pathologies
BT  - Proceedings of the 4th Borobudur International Symposium on Humanities and Social Science 2022 (BIS-HSS 2022)
PB  - Atlantis Press
SP  - 439
EP  - 447
SN  - 2352-5398
UR  - https://doi.org/10.2991/978-2-38476-118-0_49
DO  - 10.2991/978-2-38476-118-0_49
ID  - Zahrah2023
ER  -