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全基因组扫描揭示银屑病与白细胞介素-23及核因子κB信号通路的关联。

Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.

作者信息

Nair Rajan P, Duffin Kristina Callis, Helms Cynthia, Ding Jun, Stuart Philip E, Goldgar David, Gudjonsson Johann E, Li Yun, Tejasvi Trilokraj, Feng Bing-Jian, Ruether Andreas, Schreiber Stefan, Weichenthal Michael, Gladman Dafna, Rahman Proton, Schrodi Steven J, Prahalad Sampath, Guthery Stephen L, Fischer Judith, Liao Wilson, Kwok Pui-Yan, Menter Alan, Lathrop G Mark, Wise Carol A, Begovich Ann B, Voorhees John J, Elder James T, Krueger Gerald G, Bowcock Anne M, Abecasis Gonçalo R

机构信息

Department of Dermatology, University of Michigan, Ann Arbor, Michigan 48109, USA.

出版信息

Nat Genet. 2009 Feb;41(2):199-204. doi: 10.1038/ng.311. Epub 2009 Jan 25.

Abstract

Psoriasis is a common immune-mediated disorder that affects the skin, nails and joints. To identify psoriasis susceptibility loci, we genotyped 438,670 SNPs in 1,409 psoriasis cases and 1,436 controls of European ancestry. We followed up 21 promising SNPs in 5,048 psoriasis cases and 5,041 controls. Our results provide strong support for the association of at least seven genetic loci and psoriasis (each with combined P < 5 x 10(-8)). Loci with confirmed association include HLA-C, three genes involved in IL-23 signaling (IL23A, IL23R, IL12B), two genes that act downstream of TNF-alpha and regulate NF-kappaB signaling (TNIP1, TNFAIP3) and two genes involved in the modulation of Th2 immune responses (IL4, IL13). Although the proteins encoded in these loci are known to interact biologically, we found no evidence for epistasis between associated SNPs. Our results expand the catalog of genetic loci implicated in psoriasis susceptibility and suggest priority targets for study in other auto-immune disorders.

摘要

银屑病是一种常见的免疫介导性疾病,会影响皮肤、指甲和关节。为了确定银屑病易感基因座,我们对1409例银屑病患者和1436例欧洲血统对照者的438,670个单核苷酸多态性(SNP)进行了基因分型。我们在5048例银屑病患者和5041例对照者中对21个有潜力的SNP进行了随访。我们的结果为至少七个基因座与银屑病的关联提供了有力支持(每个基因座的合并P值<5×10^(-8))。已证实存在关联的基因座包括HLA-C、三个参与IL-23信号传导的基因(IL23A、IL23R、IL12B)、两个在TNF-α下游起作用并调节NF-κB信号传导的基因(TNIP1、TNFAIP3)以及两个参与调节Th2免疫反应的基因(IL4、IL13)。尽管已知这些基因座中编码的蛋白质在生物学上相互作用,但我们未发现相关SNP之间存在上位性的证据。我们的结果扩展了与银屑病易感性相关的基因座目录,并为其他自身免疫性疾病的研究提出了优先目标。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d177/2745122/a4014f983c54/nihms83342f1.jpg

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