Invited review article
The current landscape of psoriasis genetics in 2020

https://doi.org/10.1016/j.jdermsci.2020.05.008Get rights and content
Under a Creative Commons license
open access

Highlights

  • Genome-wide association studies have been conducted worldwide and identified multiple loci associated with psoriasis.

  • The functional annotations and clinical applications of the identified psoriasis risk loci have not been fully elucidated.

  • Mendelian randomization and drug repositioning are effective for translating genome-wide association studies results into clinical medicine.

Abstract

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.

Keywords

psoriasis
genome-wide association study
HLA
Mendelian randomization
drug repositioning

Cited by (0)

Kotaro Ogawa, MD, is a graduate student in the department of Statistical Genetics at Osaka University. He graduated from Osaka University Medical School in 2011. He worked as a clinician in Kinki Central Hospital and Toyonaka Municipal Hospital. After clinical training, he entered Graduate School of Medicine, Osaka University in 2016. He has engaged in the genetic study of immune diseases, such as multiple sclerosis and psoriasis. His recent focus is translating GWAS results into applications for clinical medicine.