Janus family of kinase (JAK1) was observed to be upregulated in both CD14(+) monocytes (1.95-fold) and CD4(+) T lymphocytes (1.40-fold) of BD patients.
In the haplotype analysis, GT haplotype at rs17127024 and rs310245 (1.34 [1.03-1.74], p=0.032), and the AA haplotype at rs2256298 and rs3818753 (1.41 [1.03-1.92], p=0.034) in JAK1 were associated with BD, but lost statistical significance after correction for multiple testing.
Replication and combining studies showed that three SNPs rs2780815, rs310241, rs3790532 in JAK1, but not SNP rs2834643 in RUNX1, were consistently associated with Behcet's disease (replication: Pc = 0.012-9.60 × 10(-4); combining: Pc = 0.030-1.90 × 10(-4)).