Lascorz J, Burkhardt H, Hüffmeier U, Böhm B, Schürmeyer-Horst F, Lohmann J, Ständer M, Wendler J, Kelsch R, Baumann C, Küster W, Traupe H, Reis A
Institute of Human Genetics, University of Erlangen-Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany.
Ann Rheum Dis. 2005 Jun;64(6):951-4. doi: 10.1136/ard.2004.029157. Epub 2004 Nov 11.
To determine whether the three common independent sequence variants of the putative pleiotropic non-MHC autoimmune gene CARD15 influence disease susceptibility in large German cohorts of patients with psoriatic arthritis and psoriasis vulgaris, before and after stratification to HLA-C.
DNA was obtained from 375 patients with psoriatic arthritis, 281 patients with psoriasis vulgaris without joint involvement, and 376 controls. The three variants of the CARD15 gene (R702W, G908R, leu1007fsinsC), and two single nucleotide polymorphisms of the HCR gene (HCR-325, HCR-2327) for HLA-C stratification were genotyped using allelic discrimination Taqman assays.
No significant differences in genotype frequencies were observed between controls and either the psoriatic arthritis or the psoriasis vulgaris patient population, even after stratification to HLA-C in both patient cohorts, or to the type of joint involvement within the psoriatic arthritis group.
The lack of genetic association between the most common Crohn's disease alleles of the CARD15 gene and psoriatic joint disease on large cohorts of white patients does not support a recently claimed role for CARD15 as the first non-MHC susceptibility gene in the pathogenesis of psoriatic arthritis, but confirms and extends previous studies in the case of psoriasis vulgaris.
在对银屑病关节炎和寻常型银屑病患者的大型德国队列进行分层至HLA - C之前和之后,确定假定的多效性非MHC自身免疫基因CARD15的三个常见独立序列变异是否影响疾病易感性。
从375例银屑病关节炎患者、281例无关节受累的寻常型银屑病患者和376例对照中获取DNA。使用等位基因鉴别Taqman分析对CARD15基因的三个变异(R702W、G908R、leu1007fsinsC)以及用于HLA - C分层的HCR基因的两个单核苷酸多态性(HCR - 325、HCR - 2327)进行基因分型。
在对照组与银屑病关节炎患者群体或寻常型银屑病患者群体之间,未观察到基因型频率的显著差异,即使在两个患者队列中对HLA - C进行分层,或在银屑病关节炎组内对关节受累类型进行分层之后。
在大量白人患者队列中,CARD15基因最常见的克罗恩病等位基因与银屑病关节病之间缺乏遗传关联,这并不支持最近所宣称的CARD15作为银屑病关节炎发病机制中首个非MHC易感基因的作用,但在寻常型银屑病的情况下证实并扩展了先前的研究。