Single nucleotide polymorphisms in STAT4, IL-10, and HLA genes are associated with Sjögren’s disease in dental clinic patients: a case-control study and meta-analysis

Abstract

Sjögren’s disease (SjD) is clinically heterogeneous, and a subset of patients seen in dental clinics represents a clinically defined subgroup. Understanding their genetic profile and relationship to established SjD susceptibility loci may facilitate early risk stratification and inform precision diagnostic strategies. A case-control study was conducted including 123 SjD patients from Peking University School and Hospital of Stomatology, using 1000 Genomes Phase 3 CHB and CHS populations as controls. Thirty single nucleotide polymorphisms (SNPs) in candidate genes were genotyped using MALDI-TOF mass spectrometry. Logistic regression was applied to evaluate genetic associations with SjD susceptibility. A meta analysis was conducted to identify established SjD susceptibility loci, which were then compared with findings from dental clinic SjD patients. Dental clinic SjD patients exhibited distinct clinical features: 73.20% reported sicca symptoms, 55.3% had salivary gland swelling, and 64.2% showed imaging abnormalities of the salivary glands. Significant associations were observed for IL-10 rs1800896 T > C; STAT4 (rs7574865 T > G, rs7582694 C > G); HLA (rs115575857 A > G, rs6457374 C > T); TNF rs1799964 T > C; and BLK rs13277113 G > A under the codominant model. Logistic regression confirmed significant associations of HLA rs6457374 C > T and IL-10 rs1800896 T > C under the codominant model, whereas STAT4 (rs7574865 T > G, rs7582694 C > G) showed significant associations under the recessive model. Meta-analysis identified GTF2I rs117026326 C > T, STAT4 rs7582694 C > G, TNFAIP3 (rs2230926 T > G, rs5029939 C > G), and TNF rs1800629 G > A as significantly associated loci. STAT4 (rs7574865 T > G and rs7582694 C > G) and TNF rs1799964 T > C showed consistent or partially consistent association patterns, whereas IL-10 rs1800896 T > C and HLA (rs115575857A > G, rs6457374 C > T) showed distinct association patterns in dental clinic SjD patients. STAT4 , IL-10 , and HLA loci are significantly associated with SjD in dental clinic patients. HLA rs6457374 C > T was associated with dental clinic SjD in a Chinese population, providing new insights into the genetic basis of this clinically defined subgroup.

The authors' abstract, as published at the source. BMC Oral Health, 2026 · DOI ↗