건선과 유전

초록

Psoriasis is a multifactorial disease influenced by interplay between multiple genetic and environmental risk factors. Early genetic studies usually relied on family-based linkage studies or population-based candidate gene analysis. Since the first genome-wide association study (GWAS) of psoriasis in 2007, great progress has been made in understanding the genetic basis of psoriasis. Through large-scale GWASs, more than 80 psoriasis susceptibility loci have been identified. These genes are associated with antigen presentation, IL-23/IL-17 axis, typeⅠ interferon signaling, NF-κB signaling, or skin barrier function. Among them, HLA-C*06:02 remains the most strongly associated gene in psoriasis susceptibility. Currently, genetic studies have moved beyond simple disease susceptibility and towards disease stratification. With large collection of genotyped and phenotyped individuals, the genetic factors that influence subtypes or outcome of psoriasis are being investigated. For instance, researchers are trying to discover genes related to certain comorbidities of psoriasis such as psoriatic arthritis. In the field of pharmacogenetics, researchers aim to identify genetic variants that might serve as predictor for treatment response or adverse effect. Finally, genetic studies have greatly deepened our understanding of pustular psoriasis, a rare subtype of psoriasis. In this article, we will review studies related to the current understanding of genetic basis of psoriasis.

키워드