| Presentation preference | Poster presentation |
| Title | Association study of KIR genes with sarcoidosis in a Japanese population |
| Purpose | Sarcoidosis is a genetically complex systemic inflammatory disease that affects multiple organs such as lungs, lymph nodes, eye, skin and heart. Although the etiology of sarcoidosis remains uncertain, genetic factors are involved in its pathogenesis. Killer cell immunoglobulin-like receptors (KIRs) are the key receptors for human NK cells that bind specific HLA class I ligands. KIR genes play activating or inhibitory roles in NK cells and are reportedly associated with several immune-related diseases; however, the association between KIR genes and sarcoidosis remains unclear. Here we assessed whether KIR genes were associated with sarcoidosis in a Japanese population. |
| Methods | 685 Japanese sarcoidosis patients and 1,587 Japanese controls were recruited. We imputed KIR genes and HLA alleles from genome-wide SNP data using KIR*IMP and SNP2HLA, respectively. |
| Results | The inhibitory KIR2DL3 and activating KIR2DS4wt were associated with the increased risk of sarcoidosis (corrected P (Pc)=0.026, OR=5.43 and Pc=2.2×10-8, OR=1.76, respectively). The inhibitory KIR2DL2 and activating KIR2DS2 were associated with the decreased risk (Pc=0.0047, OR=0.66 and Pc=0.0059, OR=0.66, respectively). Additionally, the inhibitory KIR2DL3+HLA-C1 pair and activating KIR2DS4wt+HLA-A/C pair were associated with the increased risk (Pc=0.047, OR=2.71 and Pc=2.8×10-6, OR=1.64, respectively), whereas the inhibitory KIR2DL2+HLA-C1 and activating KIR2DS2+HLA-C1 were associated with the decreased risk (Pc=0.0025, OR=0.65 and Pc=0.0028, OR=0.65, respectively). |
| Conclusion | Our results suggest that some KIR genes and KIR+HLA combinations contribute to the risk of sarcoidosis. To confirm our findings, future validation studies are needed. |
| Conflict of interest | No |
Authors 1
| Last name | MEGURO |
| Initials of first name(s) | A |
| Department | Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine |
| City | Yokohama, Kanagawa |
| Country | Japan |
Authors 2
| Last name | Takeuchi |
| Initials of first name(s) | M |
| Department | Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine |
| City | Yokohama, Kanagawa |
| Country | Japan |
Authors 3
| Last name | Ishihara |
| Initials of first name(s) | M |
| Department | Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine |
| City | Yokohama, Kanagawa |
| Country | Japan |
Authors 4
| Last name | Mizuki |
| Initials of first name(s) | N |
| Department | Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine |
| City | Yokohama, Kanagawa |
| Country | Japan |
