Elder J T
Department of Dermatology, University of Michigan Medical School, Ann Arbor, MI 48109-0932, USA.
Genes Immun. 2009 Apr;10(3):201-9. doi: 10.1038/gene.2009.11. Epub 2009 Mar 5.
Psoriasis is a common, immunologically mediated, inflammatory and hyperproliferative disease of the skin and joints, with a multifactorial genetic basis. We earlier mapped PSORS1, the major psoriasis susceptibility gene in the major histocompatibility complex (MHC), to within or very near HLA-Cw6. In an effort to identify non-MHC psoriasis genes, we carried out a collaborative genome-wide association study. After the initial follow-up genotyping of 21 single nucleotide polymorphisms from 18 loci, showing strong evidence of association in the initial scan, we confirmed evidence of association at seven loci. Three of these loci confirm earlier reports of association (HLA-C, IL12B, IL23R) and four identify novel signals located near plausible candidate genes (IL23A, IL4/IL13, TNFAIP3 and TNIP1). In other work, we have also shown that interferon-gamma (IFN-gamma) treatment induces interleukin (IL)-23 mRNA and protein in antigen-presenting cells (APC), leading to the proliferation of CD4+ and CD8+ memory T cells expressing IL-17. Although functional variants remain to be identified, we speculate that genetic variants at the IL4/IL13 locus contribute to the Th1 bias that is characteristic of psoriasis, that Th1-derived IFN-gamma supports expansion of IL-17+ T cells through APC-derived IL-23 and that negative regulation of inflammatory signaling through the NF-kappaB axis is impaired because of genetic variants of TNFAIP3 and TNIP1.
银屑病是一种常见的、由免疫介导的皮肤和关节炎症性及过度增殖性疾病,具有多因素遗传基础。我们之前将主要组织相容性复合体(MHC)中的主要银屑病易感基因PSORS1定位到HLA - Cw6内部或其附近。为了鉴定非MHC银屑病基因,我们开展了一项全基因组关联研究的合作项目。在对来自18个位点的21个单核苷酸多态性进行初步随访基因分型后,这些位点在初始扫描中显示出强烈的关联证据,我们证实了7个位点存在关联证据。其中3个位点证实了先前关于关联的报道(HLA - C、IL12B、IL23R),另外4个位点确定了位于可能的候选基因附近的新信号(IL23A、IL4/IL13、TNFAIP3和TNIP1)。在其他研究中,我们还表明,干扰素 - γ(IFN - γ)治疗可诱导抗原呈递细胞(APC)中白细胞介素(IL)-23的mRNA和蛋白表达,导致表达IL - 17的CD4 +和CD8 +记忆T细胞增殖。虽然功能变异体仍有待确定,但我们推测,IL4/IL13位点的基因变异导致了银屑病特有的Th1偏向,即Th1来源的IFN - γ通过APC来源的IL - 23支持IL - 17 + T细胞的扩增,并且由于TNFAIP3和TNIP1的基因变异,通过NF - κB轴对炎症信号的负调控受到损害。