韩国人群中复发性贝赫切特病的微卫星全基因组关联研究。
Replication of a microsatellite genome-wide association study of Behcet's disease in a Korean population.
机构信息
Department of Ophthalmology, Hokkaido University Graduate School of Medicine, Sapporo, Kita-15, Nishi-7, Kita-ku, Sapporo 060-8638, Japan.
出版信息
Rheumatology (Oxford). 2012 Jun;51(6):983-6. doi: 10.1093/rheumatology/ker444. Epub 2012 Jan 18.
OBJECTIVE
Behçet's disease is one of the major aetiologies of uveitis causing blindness in Asian countries. A genome-wide association study identified six microsatellite markers as disease susceptibility loci for Japanese patients with Behçet's disease. To confirm our recent results, these microsatellite markers were examined in a Korean population as a replication study.
METHODS
Study participants included 119 Behçet's disease patients and 141 controls. All were enrolled in Korea. Association between the six reported microsatellite markers (D3S0186i, D6S0014i, D6S0032i, 536G12A, D12S0645i and D22S0104i) and Behçet's disease was analysed. HLA-B was genotyped by sequence-based typing methods.
RESULTS
A microsatellite marker located near the HLA-B region demonstrated significant association with Behçet's disease (P = 0.028). The genotype and phenotype frequencies of the HLA-B*51 gene were significantly increased in patients (23.1 and 39.5%, respectively) compared with healthy controls (11.2 and 20.1%, respectively; P < 0.001).
CONCLUSION
Microsatellite analysis revealed that the HLA-B*51 gene was strongly associated with Behçet's disease in a Korean population.
目的
贝赫切特病是亚洲国家导致盲眼病的主要病因之一。全基因组关联研究确定了六个微卫星标记作为日本贝赫切特病患者的疾病易感性位点。为了证实我们最近的结果，作为一项复制研究，在韩国人群中检查了这些微卫星标记。
方法
研究参与者包括 119 名贝赫切特病患者和 141 名对照，均在韩国招募。分析了六个报道的微卫星标记（D3S0186i、D6S0014i、D6S0032i、536G12A、D12S0645i 和 D22S0104i）与贝赫切特病之间的关联。采用基于序列的分型方法对 HLA-B 进行基因分型。
结果
位于 HLA-B 区域附近的微卫星标记与贝赫切特病显著相关（P=0.028）。与健康对照组（分别为 11.2%和 20.1%）相比，患者中 HLA-B*51 基因的基因型和表型频率显著增加（分别为 23.1%和 39.5%；P<0.001）。
结论
微卫星分析表明，HLA-B*51 基因与韩国人群中的贝赫切特病密切相关。
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