Integration of genomic databases and bioinformatic approach to identify genomic variants for sjogren’s syndrome on multiple continents

Authors

  • Anisa Nova Puspitaningrum Faculty of Pharmacy, University of Ahmad Dahlan, Yogyakarta, Indonesia http://orcid.org/0000-0002-5619-2959
  • Dyah Aryani Perwitasari Faculty of Pharmacy, University of Ahmad Dahlan, Yogyakarta, Indonesia
  • Wirawan Adikusuma Departement of Pharmacy, University of Muhammadiyah Mataram, Mataram, Indonesia
  • Gina Noor Djalilah Medical faculty Muhammadiyah Surabaya, Surabaya, Indonesia
  • Haafizah Dania Faculty of Pharmacy, University of Ahmad Dahlan, Yogyakarta, Indonesia
  • Rita Maliza Biology Department, Faculty of Mathematics and Natural Sciences, Andalas University, Padang, West Sumatra, Indonesia
  • Imaniar Noor Faridah Faculty of Pharmacy, University of Ahmad Dahlan, Yogyakarta, Indonesia
  • Made Ary Sarasmita Department of Clinical Pharmacy, College of Pharmacy, Taipei Medical University, Taipei, Taiwan Pharmacy Study Program, Faculty of Science and Mathematics, Udayana University, Bali, Indonesia
  • Melodia Rezadhini Agricultural Microbiology, Faculty of Agriculture, Gadjah Mada University, Yogyakarta. Indonesia
  • Rocky Cheung Department of Chemistry and Biochemistry, University of California, Los Angeles, and CareDx, Inc.
  • Lalu Muhammad Irham Faculty of Pharmacy, University of Ahmad Dahlan, Yogyakarta, Indonesia

DOI:

https://doi.org/10.12928/mf.v19i2.23706

Keywords:

Sjogren’s syndrome, Autoimmune, Genome, Gene variation

Abstract

An autoimmune disorder is an abnormality that causes a disease. It is caused by a weakened immune system. One of the autoimmune diseases is Sjogren’s syndrome, which affects the salivary and lacrimal glands and causes dry mouth, dry eyes, and dry skin. Sjogren’s syndrome influences humans of every age, with the symptoms occurring at the age of 45–55 years and rarely in children. One of the factors causing Sjogren’s syndrome is genetic disorders. To identify genes that can influence Sjogren’s syndrome in this study, we used several databases, including GWAS Catalog, HaploReg Version 4.1, GTEX portal, and Ensembl, particularly to identify the gene expression profiles of TNIP1, TNFAIP3, and IRF5 and the quantitative properties of locus’ expression. This research showed that the missense variants and splice donor rs2233290, rs2230926, and rs2004640 influenced the susceptibility of autoimmune diseases, especially Sjogren’s syndrome, in the fibroblast tissue, sigmoid tissue, sigmoid colon, skin, esophagus, and adrenal glands. The allele frequency of each variant was then assessed in African, American, European, and Asian populations. Our data showed that TNIP1, TNFAIP3, and IRF5 genes in African and American populations had higher frequencies than in the Asian population. This implies that the last of the aforementioned populations might be relatively susceptible to the autoimmune disease Sjogren’s syndrome.

Author Biography

Anisa Nova Puspitaningrum, Faculty of Pharmacy, University of Ahmad Dahlan, Yogyakarta, Indonesia

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Published

2022-08-22

Issue

Vol. 19 No. 2: September 2022

Section

Pharmaceutical & Technology

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