ORIGINAL RESEARCH article
Front. Genet.
Sec. Immunogenetics
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1628428
Genetic Association between STAT4 and Primary Sjögren's Syndrome in Han Chinese Women
Provisionally accepted
- 1chongqing madical university, chongqing, China
- 2Chongqing Medical University, Chongqing, China
Select one of your emails
You have multiple emails registered with Frontiers:
Notify me on publication
Please enter your email address:
If you already have an account, please login
You don't have a Frontiers account ? You can register here
STAT4, a pivotal transcription factor governing immune and inflammatory responses, has been implicated in autoimmune pathogenesis. This case-control study investigated the association between STAT4 polymorphisms and primary Sjögren's syndrome (pSS) in a female Chinese Han population of 269 patients and 594 healthy controls. Six STAT4 single-nucleotide polymorphisms (rs10931481, rs1400656, rs10168266, rs3821236, rs7601754, and rs10174238) were genotyped using MassARRAY, with STAT4 expression determined by quantitative real-time PCR and cytokine levels assessed via ELISA. The rs10168266-C allele emerged as a significant 2 risk factor for pSS, with CC homozygotes exhibiting elevated disease susceptibility compared to CT/TT carriers (Pc= 0.001, OR = 1.905). Conversely, the T allele conferred protection (Pc= 0.002, OR = 0.575), and CT genotypes were underrepresented in patients (Pc= 0.003, OR = 0.539). Notably, rs10168266-CC individuals displayed elevated STAT4 expression in peripheral blood mononuclear cells and elevated serum IL-6 levels compared to T allele carriers (both P < 0.05). We identified rs10168266 as a novel genetic determinant of pSS susceptibility in the female Han Chinese population, with its expression potentially mediated via STAT4-driven dysregulation of IL-6 signaling.
Keywords: genetic variants, susceptibility, primary Sjögren's syndrome, Single nucleotide polymorphism, STAT4
Received: 14 May 2025; Accepted: 26 Jun 2025.
Copyright: © 2025 Li, Lu, Cen, Zhen, Zhang and Shengming. 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: Wang Shengming, Chongqing Medical University, Chongqing, China
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.