BRIEF RESEARCH REPORT article
Front. Genome Ed.
Sec. Genome Editing in Human Health and Disease
Volume 7 - 2025 | doi: 10.3389/fgeed.2025.1625393
"CRISPR-Cas9 Editing of TNFAIP3 Variants in Salivary Gland Epithelial Cells to Study Sjögren's Disease Pathogenesis"
Provisionally accepted
- 11. Basic and Clinical Translational Sciences, Tufts University School of Medicine, Tufts School of Graduate Biomedical Sciences, 136 Harrison Ave, M&V Room 811, Boston, MA 02111, United States., Boston, United States
- 22. Tufts Medical Center Rheumatology, 860 Washington Street, South Building, 3rd floor, Boston, MA 02111, Boston, United States
- 33. Department of Genetics, Molecular and Cell Biology, Tufts University School of Medicine, Tufts School of Graduate Biomedical Sciences, Boston, United States
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Sjögren's Disease (SD) is a systemic autoimmune disease that particularly affects salivary and lacrimal glands causing sicca symptoms. Genetic polymorphism in the TNFAIP3 gene has been implicated in the pathogenesis of SD. In this study, we aimed to functionally determine the impact of two specific single nucleotide polymorphisms (SNPs) in TNFAIP3, rs6920220(G/A) and rs2230926(T/C/G), on the pathogenesis of SD. Using CRISPR-Cas9, we edited human salivary gland epithelial cells (SGECs) to incorporate TNFAIP3 SNPs rs6920220(G/A) and rs2230926(T/C/G) and co-cultured them with Jurkat cells. We performed assays to examine gene expression, inflammatory cytokine levels, and related signaling pathways to investigate the effects of these genetic variants on TNFAIP3 function and cellular response. Our results demonstrated that these SNPs reduced TNFAIP3 expression, increased NF-κB
Keywords: CRISPR-Cas9, Sjögren's Disease (SD), TNFAIP3, NF-κB, salivary gland, snps, Autoimmune Diseases
Received: 08 May 2025; Accepted: 23 Jun 2025.
Copyright: © 2025 Ghosh, Tu, Zhu, Panginikkod and Chen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Jake Chen, 1. Basic and Clinical Translational Sciences, Tufts University School of Medicine, Tufts School of Graduate Biomedical Sciences, 136 Harrison Ave, M&V Room 811, Boston, MA 02111, United States., Boston, United States
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