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TitleAssociation study of KIR alleles with Behçet's disease in a Japanese population
PurposeBehçet's disease (BD) is a chronic systemic inflammatory disorder involving recurrent ocular symptoms, oral and genital ulcers, and skin lesions. BD is strongly associated with the HLA class I alleles, HLA-B*51 and -A*26. Killer cell immunoglobulin-like receptors (KIRs) are the key receptors for human NK cells that bind specific HLA class I ligands. KIR alleles play activating or inhibitory roles in NK cells and are reportedly associated with several immune-related diseases; however, the association between KIR alleles and BD remains unclear. Here we assessed whether KIR alleles were associated with BD in a Japanese population.
Methods608 Japanese BD patients and 1587 Japanese controls were recruited. We imputed KIR and HLA alleles from genome-wide SNP data using KIR*IMP and SNP2HLA, respectively.
ResultsThe inhibitory KIR receptor 2DL2 and activating receptor 2DS2 were associated with the increased risk of BD (corrected P (Pc)<0.05: OR=1.62 and 1.60, respectively). Two activating receptors, 2DS4 and 3DS1, were associated with the decreased risk (Pc<0.05: OR=0.48 and 0.72, respectively). Additionally, three inhibitory KIR-HLA pairs, 2DL1-C2, 2DL2-C1 and 3DL1-Bw4I80, and one activating pair, 2DS2-C1, were associated with the increased risk (Pc<0.05: OR=1.59, 1.59, 2.22 and 1.56, respectively), whereas two inhibitory pairs, 3DL1-Bw4T80 and 3DL2-A3/A11, were associated with the decreased risk (Pc<0.05: OR=0.63 and 0.56, respectively).
ConclusionOur results suggest that some KIR alleles and KIR-HLA combinations contribute to the BD risk. To confirm our findings, future validation studies are needed.
Conflict of interestNo
Author 1
Last nameMEGURO
Initials of first name(s)A
Author 2
Initials of first name(s)M
Author 3
Last nameYAMANE
Initials of first name(s)T
Author 4
Last nameHORITA
Initials of first name(s)N
CountryUnited States
Author 5
Last nameMIZUKI
Initials of first name(s)N