JURNAL FARMASIMED (JFM)
Vol 8 No 2 (2026): Jurnal Farmasimed (JFM)

Identification of Gene Variations and Gene Expression in Allergic Diseases Using a Bioinformatics Approach

Naila Ismatun Hasanah (Unknown)
Ilham Alifiar (Unknown)
Rahmawati (Unknown)



Article Info

Publish Date
30 Apr 2026

Abstract

Background: Allergy is an abnormal or excessive immune response to allergens involving complex interactions between genetic and environmental factors. Identification of genetic variations contributing to allergy susceptibility is important to understand molecular mechanisms and support the development of personalized biomarkers and therapies. Objective: This study aimed to identify genetic variations and gene expression profiles associated with allergic diseases using a bioinformatics approach. Research Methods: The study was conducted using a bioinformatics approach by analyzing data from GWAS Catalog, HaploReg v4.2, SNPnexus, GTEx Portal, and Ensembl Genome Browser. Results: A total of 18 missense single-nucleotide polymorphism variants are associated with allergic diseases. Three variants, namely rs1805009 (MC1R), rs183884396 (TESPA1), and rs59039403 (NLRP10), show the highest prediction score (1.000), indicating the most significant biological impact. Gene expression analysis shows dominant expression in whole blood, EBV-transformed lymphocytes, and skin (sun-exposed). Conclusion: The identified missense variants potentially contribute to the pathogenesis of allergic diseases and may serve as a basis for the development of genetic biomarkers and personalized therapeutic approaches.

Copyrights © 2026






Journal Info

Abbrev

JFM

Publisher

Subject

Medicine & Pharmacology

Description

Jurnal FARMASIMED (JFM) Volume I Nomor 1 Periode Mei - Oktober Tahun 2018. Jurnal ini memberikan ruang bagi akademisi, peneliti dan pengguna hasil penelitian dan pengabdian untuk mendiseminasikan, menginformasikan, mendiskusikan dan menggunakan hasil penelitian dan pengabdian sebagai upaya ...