鉴定出两个与大疱性类天疱疮相关的新型等位基因 HLA-DQA1*05:05 和 -DRB1*07:01，存在于德国人中。
Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans.
机构信息
Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.
CRIS, Center for Research On Inflammation of the Skin, University of Lübeck, Lübeck, Germany.
出版信息
Orphanet J Rare Dis. 2021 May 19;16(1):228. doi: 10.1186/s13023-021-01863-9.
Abstract
Bullous pemphigoid (BP) is the most common autoimmune skin blistering disease characterized by autoimmunity against the hemidesmosomal proteins BP180, type XVII collagen, and BP230. To elucidate the genetic basis of susceptibility to BP, we performed the first genome-wide association study (GWAS) in Germans. This GWAS was combined with HLA locus targeted sequencing in an additional independent BP cohort. The strongest association with BP in Germans tested in this study was observed in the two HLA loci, HLA-DQA105:05 and HLA-DRB107:01. Further studies with increased sample sizes and complex studies integrating multiple pathogenic drivers will be conducted.
摘要
大疱性类天疱疮（BP）是最常见的自身免疫性皮肤水疱病，其特征是针对半桥粒蛋白 BP180、XVII 型胶原和 BP230 的自身免疫。为了阐明对 BP 易感性的遗传基础，我们在德国人中进行了首次全基因组关联研究（GWAS）。该 GWAS 与另外一个独立的 BP 队列中的 HLA 基因座靶向测序相结合。在这项研究中，在德国人中与 BP 相关性最强的是两个 HLA 基因座，HLA-DQA105:05 和 HLA-DRB107:01。将进行具有更大样本量的进一步研究和整合多个致病驱动因素的复杂研究。
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