Microsatellite polymorphism of Behçet disease in Korean population that was found by genome wide association study

1. Yukihiro Horie^1,2
2. Nobuyoshi Kitaichi³
3. Eun Bong Lee⁴
4. Kenichi Namba¹
5. Susumu Ishida¹
6. Shigeaki Ohno¹

¹Department of Ophthalmology, Hokkaido University, Japan
²Department of Ophthalmology, KKR Sapporo Medical Center Hospital, Japan
³Department of Ophthalmology, Health Sciences University of Hokkaido, Japan
⁴Department of Internal Medicine and Graduate Program in Immunology, Seoul National University Hospital, Korea

Purpose: Recently we have performed genome wide association study (GWAS) by using 23,465 microsatellite markers and found that the six microsatellite markers and HLA-A*26 were the new disease susceptible gene for the Japanese Behcet disease (BD). To confirm these result in Korean population, we investigated six microsatellite markers and HLA-A and -B typing.

Methods: In this study, 119 patients with BD and 141 healthy controls were enrolled; every participant was a Korean. Six microsatellite markers; D3S0186i, D6S0014i, D6S0032i, 536G12A, D12S0645i and D22S0104i, were analysed for an association with BD. HLA-A and -B typing were performed by sequence based typing (SBT) methods.

Results: D6S0032i which was located near the HLA-B showed association [P=0.028; odds ratio (OR) = 1.86; 95% CI 1.06-8.66]. Other five markers were not shown significant association. The genotype frequencies of the HLA-A*26 and -B*51 was significantly increased in Korean BD (8.5% and 23.1%) compared with healthy controls (4.3% and 11.2%) (P=0.047, OR=2.08, CI=1.00-9.73) (P=0.00028, OR=2.39, CI=1.48-9.23), respectively. The phenotype frequencies of the HLA-A*26 and -B*51 was also significantly increased in Korean BD (16.0% and 39.5%) compared with healthy controls (7.9% and 20.1%) (P=0.040, OR=2.27, CI=1.02-10.28) (P=0.00064, OR=2.59, CI=1.49-9.74), respectively. The phenotype frequencies of the HLA-B*51 was significantly increased in the patients with ocular lesions (51.1%) compared with the patients without ocular lesions (32.4%) (P=0.020, OR=2.47, CI=1.15-10.4).

Conclusions: HLA-A*26 and -B*51 were significantly increased in the BD patients and HLA-B*51 was associated with ocular lesions. There was no significant association in microsatellite markers except for the marker in HLA region.