ArticleFrontiers in genetics2025
Genetic association between
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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6 authors.
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Abstract
Introduction: STAT4, a pivotal transcription factor governing immune and inflammatory responses, has been implicated in autoimmune pathogenesis. This case-control study aimed to examine the relationship between STAT4 single-nucleotide polymorphisms (SNPs) and primary Sjögren's syndrome (pSS) in a female Chinese Han population, exploring potential genetic mechanisms underlying pSS susceptibility. Methods: Six STAT4 single-nucleotide polymorphisms (rs10931481, rs1400656, rs10168266, rs3821236, rs7601754, and rs10174238) were genotyped using MassARRAY, with Results: The rs10168266-C allele emerged as a significant 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 Discussion: This study represents the initial investigation to uncover the genetic association between the STAT4 gene and pSS in Han Chinese women. The rs10168266 polymorphism in the STAT4 gene is a novel genetic determinant of pSS susceptibility in female Chinese Han populations. The mechanism may involve dysregulation of IL-6 signaling driven by STAT4, offering a theoretical foundation for the advancement of gene therapy.
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