Genetic analysis of HLA-B*27 anterior uveitis in patients presenting either acute or chronic anterior uveitis among Northern Thai populations.

Anterior uveitis (AU), an inflammatory uveal disease, can be classified as acute or chronic based on disease progression. In this study, we aimed to identify the genetic variants of HLA-B*27 anterior uveitis in patients presenting with either acute (AAU) or chronic (CAU) within the Northern Thai population. A case-control study was conducted involving three groups: 4 individuals with AAU, 6 with CAU, and 10 healthy controls. Whole exome sequencing was performed, and data were analyzed using descriptive statistics and Python-based tools for frequency comparison. Different genetic profiles were identified for AAU and CAU. Two exclusive variants, rs2437812 (located between ABCA1 and SLC44A1) and rs12525170 (PSORS1C1) emerged as candidate variants that may help differentiate acute from chronic AU. In CAU-related gene analysis, we identified 16 SNPs with a high frequency, especially rs361525 (Tumor necrosis factor; TNF), rs8193036 (Interleukin 17A; IL17A), and rs1800693 (TNF receptor superfamily member 1A; TNFRSF1A). Our study demonstrated different genetic profiles among HLA-B*27-associated AAU and CAU, suggesting that besides HLA-B*27 positivity, different genetic factors contribute to the disease development and progression. Further research involving larger cohorts may help validate these findings and clarify the role of these SNPs in early diagnosis and personalized management strategies.