Psoriasis and Other Complex Trait Dermatoses: From Loci to Functional Pathways

被引：71

作者：

Capon, Francesca ^{[1
]}

Burden, A. David ^{[2
]}

Trembath, Richard C. ^{[1
]}

Barker, Jonathan N. ^{[1
]}

机构：

[1] Kings Coll London, Div Genet & Mol Med, London WC2R 2LS, England

[2] Univ Glasgow, Dept Dermatol, Glasgow G12 8QQ, Lanark, Scotland

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2012年 / 132卷 / 03期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; HLA-C; HAPLOTYPE ANALYSIS; CROHNS-DISEASE; GENETIC-DETERMINANTS; COMMON VARIANTS; RISK LOCI; CORNEODESMOSIN; PSORS1;

D O I：

10.1038/jid.2011.395

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Driven by advances in molecular genetic technologies and statistical analysis methodologies, there have been huge strides taken in dissecting the complex genetic basis of many inflammatory dermatoses. One example is psoriasis, for which application of classical linkage analysis and genome-wide association investigation has identified genetic loci of major and minor effect. Although most loci independently have modest genetic effects, they identify important biological pathways potentially relevant to disease pathogenesis and therapeutic intervention. In the case of psoriasis, these appear to involve the epidermal barrier, NF-kappa B mechanisms, and T helper type 17 adaptive immune responses. The advent of next-generation sequencing methods will permit a more detailed and complete map of disease genetic architecture, a key step in developing personalized medicine strategies in the clinical management of the complex inflammatory dermatoses.

引用

页码：915 / 922

页数：8

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