rs610604

This candidate gene association study examined five TNFAIP3 SNPs (rs10499194, rs610604, rs7753873, rs5029928, rs9494885) in 722 Chinese Han Behcet's disease patients and 1,415 controls. The strongest association was rs9494885 with BD (TC genotype OR=2.03, p=1.83×10⁻¹⁰), while rs10499194 and rs7753873 showed weaker associations. The rs9494885 TT genotype was protective (OR=0.50, p=1.23×10⁻¹⁰).

Case-control study of 716 Meniere's disease patients and 1,628 controls using ImmunoChip genotyping identified intronic variants rs3774937 (C allele) and rs4648011 (G allele) in the NFKB1 gene associated with faster hearing loss progression in patients with unilateral sensorineural hearing loss (corrected p=0.009 and p=0.003, respectively). These variants reduced median time to reach hearing stage 3 (≥40 dB) by approximately 2 years. No single variants reached genome-wide significance for MD susceptibility, and these NFKB1 variants did not influence hearing in bilateral MD.

A pair-matched case-control study (239 cases, 478 controls) in the Chinese Han population identified rs582757 in the TNFAIP3 gene as associated with reduced risk of rheumatic heart disease (RHD). The minor C allele showed a per-allele odds ratio of 0.57 (95% CI 0.42-0.78, p=0.000) in the additive model and a 0.54-fold reduced risk under the dominant model. No significant associations were found for SNPs in the TRAF1 or C5 genes.