Identification of disease susceptibility genes controlling psoriasis.

本研究的目的是确定控制牛皮癣的疾病易感基因。通过100例日本银屑病患者，我们研究了6p21.3染色体上人类主要组织相容性复合体的基因（HLA，HCR,TNF-α）。可以想象，这三个基因可能参与牛皮癣的发展。此外，我们还检测了KIR在作为HLA受体的染色体19q上的遗传多态性。我们发现以下事实：首先，KIR基因多态性与银屑病易感性相关。(J.Invest.Dermatol 122:1133 - 1136, 2004)。其次，HCR在4个位点(外显子4（368*C→T, 404*C→T）、外显子14（1802*G→T）和外显子18（2406*C→G）上存在遗传多态性（α-螺旋盘绕杆同源）。第三，在HLA、HCR和TNF-α中，我们没有发现HLA-HCR - TNF-α的3个等位基因组合，尽管我们发现HLA- cw6与HCR之间存在显著的组合。此外，对环孢素作为银屑病治疗之一的应答与KIR多态性相关。总之，HLA-C可能是控制银屑病易感性的重要基因之一。

The aim of the present study was to identify disease susceptibility genes controlling psoriasis. By using unrelated 100 Japanese patients with psoriasis, we investigated the genes (HLA,HCR,TNF-α) within the human major histocompatibility complex on chromosome 6p 21.3. It is conceivable that these three genes can be involved in the development of psoriasis.Furthermore, we examined genetic polymorphisms of KIR on chromosome 19q which is a receptor for HLA. We found the following facts : First, genetic polymorphisms of KIR were associated with the disease susceptibility to psoriasis. (J.Invest.Dermatol.,122:1133-1136,2004). Second, genetic polymorphism of HCR was (α-helix coiled-coil rod homolog) observed at 4 sites (exon4(368*C→T, 404*C→T), exon14(1802*G→T), and exon18(2406*C→G). Third, among HLA,HCR, and TNF-α, we found no significant 3 allelic combinations of HLA-HCR - TNF-α, although we found a significant combination between HLA-Cw6 and HCRs. Furthermore responsive to cyclosporine as one of the psoriatic therapy was associated with KIR polymorphisms.In conclusion, it is possible that HLA-C is one of the hey genes controlling the disease susceptibility to psoriasis.