Department of Dermatology, University of California San Francisco, San Francisco, CA, USA.
Lake Erie College of Osteopathic Medicine, Bradenton, FL, USA.
J Transl Med. 2024 Sep 11;22(1):835. doi: 10.1186/s12967-024-05591-z.
Psoriasis is a chronic, immune-mediated inflammatory skin disease associated with a polygenic mode of inheritance. There are few studies that explore the association of a psoriasis Polygenic Risk Score (PRS) with patient clinical characteristics, and to our knowledge there are no studies examining psoriasis PRS associations across different ethnicities. In this study, we used a multi-racial psoriasis cohort to investigate PRS associations with clinical phenotypes including age of onset, psoriatic arthritis, other comorbidities, psoriasis body location, psoriasis subtype, environmental triggers, and response to therapies. We collected patient data and Affymetrix genome-wide SNP data from a cohort of 607 psoriasis patients and calculated an 88-loci PRS (PRS-ALL), also partitioned between genetic loci within the HLA region (PRS-HLA; 11 SNPS) and loci outside the HLA region (PRS-NoHLA; 77 SNPS). We used t-test and logistic regression to analyze the association of PRS with clinical phenotypes. We found that PRS-HLA and PRS-noHLA had differing effects on psoriasis age of onset, psoriatic arthritis, psoriasis located on the ears, genitals, nails, soles of feet, skin folds, and palms, skin injury as an environmental trigger, cardiovascular comorbidities, and response to phototherapy. In some cases these PRS associations were ethnicity specific. Overall, these results show that the genetic basis for clinical manifestations of psoriasis are driven by distinct HLA and non-HLA effects, and that these PRS associations can be dependent on ethnicity.
银屑病是一种慢性、免疫介导的炎症性皮肤病,与多基因遗传模式有关。很少有研究探讨银屑病多基因风险评分(PRS)与患者临床特征的相关性,据我们所知,也没有研究在不同种族之间研究银屑病 PRS 相关性。在这项研究中,我们使用了一个多种族银屑病队列来研究 PRS 与临床表型的相关性,包括发病年龄、银屑病关节炎、其他合并症、银屑病体部位置、银屑病亚型、环境触发因素和治疗反应。我们从 607 名银屑病患者的队列中收集了患者数据和 Affymetrix 全基因组 SNP 数据,并计算了一个包含 88 个基因座的 PRS(PRS-ALL),还将其划分为 HLA 区域内的遗传基因座(PRS-HLA;11 个 SNP)和 HLA 区域外的基因座(PRS-NoHLA;77 个 SNP)。我们使用 t 检验和逻辑回归分析 PRS 与临床表型的相关性。我们发现,PRS-HLA 和 PRS-NoHLA 对银屑病发病年龄、银屑病关节炎、耳部、生殖器、指甲、脚底、皮肤褶皱和手掌、皮肤损伤作为环境触发因素、心血管合并症以及光疗反应的影响不同。在某些情况下,这些 PRS 相关性具有种族特异性。总的来说,这些结果表明银屑病临床表现的遗传基础是由不同的 HLA 和非 HLA 效应驱动的,并且这些 PRS 相关性可能依赖于种族。