Journal of Environmental Biology

Genetic and pathway analysis of Sjögren's Syndrome: Insights from top 30 associated genes

A. Dharaneedhar¹*, K.M. Jyothi¹, E.V. Ravikanth², G.M. Chowdary¹ and U. Adiga³       

¹Department of General Medicine, Apollo Institute of Medical Sciences and Research Chittoor, Murukambattu - 517 127, India

²Department of Dermatology, Apollo Institute of Medical Sciences and Research Chittoor, Murukambattu - 517 127, India

³Department of Biochemistry, Apollo Institute of Medical Sciences and Research Chittoor, Murukambattu - 517 127, India

Received: 29 November 2025                   Revised: 04 May 2026                   Accepted: 04 June 2026

*Corresponding Author Email: dharaneedhar_a@aimsrchittoor.edu.in                         *ORCiD: https://orcid.org/0009-0005-8310-3850

Abstract

Aim: Sjögren's syndrome (SS) is an autoimmune disorder where immune cells infiltrate the body's moisture-producing glands. The top 30 genes associated with the development of Sjögren’s syndrome were retrieved from the DisGeNET database to characterize the biological processes, cellular components and molecular functions implicated in disease pathogenesis.

Methodology: The top 30 VSD-associated genes from DisGeNET were subjected to comprehensive GO, pathway, transcription factor, and metabolite enrichment analyses, with visualizations generated using R (v4.4.2).

Results: The biological processes that came up most often involved immune regulation, inflammatory responses, and cytokine signaling. These genes were mostly located in extracellular regions and at immunological synapses. The most significant molecular functions were cytokine activity and receptor binding. When we looked at pathways, immune infiltration and allograft rejection really stood out. Metabolite analysis connected Sjögren’s syndrome genes with simvastatin and inflammatory markers, while drug effects were linked to bone marrow.

Interpretation: This study points to a strong immune component in SS and highlights IL-10, IL-6, IFNG, and TNF as genes worth investigating further. Modulation of these cytokines may facilitate precision medicine approaches and more targeted therapeutic strategies for Sjögren’s syndrome.

Key words: Autoimmunity, Cytokine signaling, Gene enrichment, Inflammation, Sjögren's syndrome

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