Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Department of Neurology, Osaka University Graduate School of Medicine, Suita, Japan.
Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Laboratory of Statistical Immunology Frontier Research Center (WPI-IFReC), Osaka University, Suita, Japan; Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives, Osaka University, Suita, Japan.
J Dermatol Sci. 2020 Jul;99(1):2-8. doi: 10.1016/j.jdermsci.2020.05.008. Epub 2020 May 28.
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.
银屑病是一种与皮肤和关节炎症相关的免疫介导性疾病，影响着全球很大一部分人群。它是一种遗传性疾病：个体的遗传背景调节其易感性。在遗传学中，多个人类白细胞抗原（HLA）基因与银屑病的发病风险关联最密切，尤其是 HLA-C*06:02。在过去的 10 年中，已经在多个人群中进行了银屑病的大规模全基因组关联研究（GWAS），这大大增加了与银屑病易感性相关的遗传位点数量（n > 80）。了解银屑病的遗传背景对于理解该疾病的生物学、识别临床生物标志物、发现新的药物靶点以及加速个体化医学的发展都很重要。然而，全基因组和长读测序技术在银屑病遗传分析中的应用仍在发展中。此外，将银屑病风险相关的遗传变异转化为功能注释和临床应用的实用策略仍然具有挑战性。在这篇综述中，我们详细介绍了银屑病遗传学的现状和未来，并介绍了大规模 GWAS 数据的最新应用，尤其是在日本人群中的应用。
