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银屑病的遗传学

The genetics of psoriasis.

作者信息

Elder J T, Nair R P, Guo S W, Henseler T, Christophers E, Voorhees J J

机构信息

Department of Dermatology, University of Michigan, Ann Arbor.

出版信息

Arch Dermatol. 1994 Feb;130(2):216-24.

PMID:8304761
Abstract

BACKGROUND AND DESIGN

Psoriasis is a member of a class of common, HLA-associated conditions in which disease susceptibility appears to be heritable. However, the mode of inheritance of these diseases has been difficult to define in simple mendelian terms. Psoriasis displays one of the strongest HLA associations of this class of diseases. However, only a small fraction of those who carry the implicated HLA susceptibility alleles develop disease, and it has proven difficult to demonstrate that the HLA associations observed are due to formal genetic linkage between the disease and the HLA locus. Although the role of environmental factors in psoriasis and these other diseases cannot be denied, the participation of additional genes, not necessarily linked to HLA, has long been suspected.

OBSERVATIONS

Epidemiologic and immunogenetic data are reviewed and analyzed, which demonstrate that a predisposition to psoriasis is heritable, and which implicate genes of the HLA locus as necessary but not sufficient determinants of psoriasis. Recent developments in human genome research are described, which make possible a systematic search for additional genetic determinants of psoriasis, including those unlinked to HLA.

CONCLUSIONS

As one of the most common, most heritable, and most highly HLA-associated examples of this class of HLA-associated diseases, psoriasis represents an ideal target for the application of this emerging genomic technology.

摘要

背景与设计

银屑病是一类常见的、与HLA相关的疾病之一,这类疾病的易感性似乎具有遗传性。然而,这些疾病的遗传模式很难用简单的孟德尔遗传术语来定义。银屑病表现出这类疾病中最强的HLA关联性之一。然而,携带相关HLA易感等位基因的人中只有一小部分会发病,而且很难证明所观察到的HLA关联性是由于疾病与HLA基因座之间存在正式的遗传连锁。尽管环境因素在银屑病及其他这类疾病中的作用不可否认,但长期以来人们一直怀疑还存在其他不一定与HLA连锁的基因参与其中。

观察结果

对流行病学和免疫遗传学数据进行了回顾与分析,这些数据表明银屑病易感性具有遗传性,并表明HLA基因座的基因是银屑病发病的必要但非充分决定因素。描述了人类基因组研究的最新进展,这些进展使得系统搜索银屑病的其他遗传决定因素成为可能,包括那些与HLA不连锁的因素。

结论

作为这类与HLA相关疾病中最常见、遗传性最强且与HLA关联性最高的例子之一,银屑病是应用这种新兴基因组技术的理想靶点。

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The genetics of psoriasis.银屑病的遗传学
Arch Dermatol. 1994 Feb;130(2):216-24.
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[Linkage between HLA and the susceptibility gene of psoriasis].[人类白细胞抗原(HLA)与银屑病易感基因之间的联系]
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The genetics of psoriasis--selected novelties in 2008.银屑病的遗传学——2008年的部分新进展
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