Shandong Provincial Hospital for Skin Diseases & Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan, Shandong, China, Shandong Provincial Medical Center for Dermatovenereology, Jinan, Shandong, China.
Shandong Provincial Hospital for Skin Diseases & Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan, Shandong, China.
Eur J Dermatol. 2024 Apr 1;34(2):193-197. doi: 10.1684/ejd.2024.4641.
Previous studies reveal that psoriatic arthritis (PsA) and ankylosing spondylitis (AS) share susceptibility genes, such as HLA-B27, demonstrating a degree of genetic overlap between these diseases. Recent studies have identified a number of novel AS and PsA genetic susceptibility loci, but data on these loci in Chinese PsA patients are limited. To identify candidate genes that confer susceptibility to PsA in Chinese patients with PsA, psoriasis vulgaris (PsV), and healthy controls. Sixteen susceptibility loci, reported in a genome-wide association study of AS, and nine susceptibility loci, reported in candidate gene studies of PsA, were examined. Single-nucleotide polymorphisms (SNPs) were genotyped in 503 patients with PsA, 496 patients with PsV, and 979 healthy controls using the SNPscanTM multiplex SNP genotyping platform. PLINK software and logistic regression analysis were used to estimate the statistical significance of associations. PPP2R3C (rs8006884) was shown to significantly associate with PsA+PsV (p = 1.92×10-3, OR = 1.28) and was suggested to associate with PsV (p = 0.03, OR = 1.19). A suggestive association was also observed between IL-23R (rs12141575) and PsA as well as with axial PsA based on subtype analysis, KIF3A (rs2897442) and PsV, and ERN1 (rs196941) or IFIH1 (rs984971) and axial PsA. Our results suggest that PPP2R3C confers susceptibility to PsA and PsV, and that this gene may be related to the pathogenesis of psoriatic lesions and arthritis. Moreover, our results indicate a possible association between IL-23R, ERN1, or IFIH1 and subtypes of PsA, and between KIF3A and PsV.
先前的研究表明，银屑病关节炎（PsA）和强直性脊柱炎（AS）具有共同的易感基因，如 HLA-B27，这表明这两种疾病之间存在一定程度的遗传重叠。最近的研究已经确定了许多新的 AS 和 PsA 遗传易感性位点，但关于中国 PsA 患者这些位点的数据有限。为了确定中国 PsA 患者中与 PsA 易感性相关的候选基因，对银屑病（PsV）和健康对照者进行了研究。在 AS 的全基因组关联研究中报道了 16 个易感基因座，在 PsA 的候选基因研究中报道了 9 个易感基因座。使用 SNPscanTM 多重 SNP 基因分型平台对 503 例 PsA 患者、496 例 PsV 患者和 979 例健康对照者的单核苷酸多态性（SNP）进行了基因分型。使用 PLINK 软件和逻辑回归分析来估计关联的统计学意义。结果表明，PPP2R3C（rs8006884）与 PsA+PsV 显著相关（p = 1.92×10-3，OR = 1.28），并与 PsV 相关（p = 0.03，OR = 1.19）。在亚型分析中，IL-23R（rs12141575）与 PsA 以及与轴性 PsA 之间也观察到了提示性关联，KIF3A（rs2897442）与 PsV 之间，以及 ERN1（rs196941）或 IFIH1（rs984971）与轴性 PsA 之间也存在提示性关联。我们的结果表明，PPP2R3C 赋予了 PsA 和 PsV 的易感性，并且该基因可能与银屑病皮损和关节炎的发病机制有关。此外，我们的结果表明，IL-23R、ERN1 或 IFIH1 与 PsA 的亚型之间，以及 KIF3A 与 PsV 之间可能存在关联。
