The current landscape of psoriasis genetics in 2020

被引:110
作者
Ogawa, Kotaro [1 ,2 ]
Okada, Yukinori [1 ,3 ,4 ]
机构
[1] Osaka Univ, Dept Stat Genet, Grad Sch Med, 2-2 Yamadaoka, Suita, Osaka 5650871, Japan
[2] Osaka Univ, Dept Neurol, Grad Sch Med, Suita, Osaka, Japan
[3] Osaka Univ, Lab Stat Immunol, Frontier Res Ctr WPI IFReC, Suita, Osaka, Japan
[4] Osaka Univ, Inst Open & Transdisciplinary Res Initiatives, Integrated Frontier Res Med Sci Div, Suita, Osaka, Japan
基金
日本学术振兴会;
关键词
psoriasis; genome-wide association study; HLA; Mendelian randomization; drug repositioning; GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; HLA-C; ATOPIC-DERMATITIS; RISK; ARTHRITIS; VARIANTS; REGION; IDENTIFICATION; PREVALENCE;
D O I
10.1016/j.jdermsci.2020.05.008
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Psoriasis is an immune-mediated disease associated with skin and joint inflammation that affects large proportions of populations worldwide. It is a heritable disease: individuals' genetic backgrounds modulate their susceptibility. In genetics, multiple human leukocyte antigen (HLA) genes are most strongly associated with the risk of psoriasis, especially HLA-C*06:02. In the last 10 years, large-scale genome-wide association studies (GWASs) of psoriasis have been conducted in multiple populations, and these have substantially increased the number of genetic loci associated with psoriasis susceptibility (n > 80). Understanding the genetic background of psoriasis is important for understanding the disease's biology, identifying clinical biomarkers, discovering novel drug targets, and accelerating the journey towards personalized medicine. However, the application of whole-genome and long-read sequencing technology in psoriasis genetic analysis is still developing. Moreover, achieving practical strategies for translating psoriasis risk-associated genetic variants into functional annotations and clinical applications remains challenging. In this review, we detail the current and future landscape of psoriasis genetics and introduce the cutting-edge use of large-scale GWAS data, especially in the Japanese population. (C) 2020 The Author(s). Published by Elsevier B.V. on behalf of Japanese Society for Investigative Dermatology.
引用
收藏
页码:2 / 8
页数:7
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