Abstract
Purpose :
rs6871626, an intergenic variant close to the IL12B gene, is reportedly associated with several immune-related diseases. Recent study investigated the association of rs6871626 with uveitis in a Han Chinese population and reported that rs6871626 was associated with Vogt-Koyanagi-Harada disease (VKH), but not Behçet’s disease (BD). In this study, to verify the association of rs6871626 with VKH and BD, we conducted a replication study using a Japanese population.
Methods :
We recruited 497 Japanese VKH patients, 826 Japanese BD patients and 1,183 Japanese healthy controls. We genotyped rs6871626 using the TaqMan assay, and assessed the allelic and genotypic diversity among cases and controls.
Results :
rs6871626 showed a significant allelic association with VKH (P = 9.7 × 10-5), and the A allele of rs6871626 had an increased risk of VKH (OR = 1.35): this finding is in line with the previous study in a Han Chinese population. In the genotypic test, the A allele of rs6871626 showed the strongest association under the additive inheritance model (P = 7.9 × 10-5, OR = 1.37). In contrast, rs6871626 was not significantly associated with BD, as previously reported.
Conclusions :
We found that rs6871626 contributes to the risk of VKH in both the Japanese and Han Chinese populations, suggesting that rs6871626 is an important risk factor for susceptibility to VKH. To confirm the findings, future validation studies with other independent populations are needed.
This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.