Arthritis Research UK Epidemiology Unit, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.
Ann Rheum Dis. 2011 Sep;70(9):1641-4. doi: 10.1136/ard.2011.150102. Epub 2011 May 29.
To investigate a shared genetic aetiology for skin involvement in psoriasis and psoriatic arthritis (PsA) by genotyping single-nucleotide polymorphisms (SNPs), reported to be associated in genome-wide association studies of psoriasis, in patients with PsA.
SNPs with reported evidence for association with psoriasis were genotyped in a PsA case and control collection from the UK and Ireland. Genotype and allele frequencies were compared between PsA cases and controls using the Armitage test for trend.
Seven SNPs mapping to the IL1RN, TNIP1, TNFAIP3, TSC1, IL23A, SMARCA4 and RNF114 genes were successfully genotyped. The IL23A and TNIP1 genes showed convincing evidence for association (rs2066808, p = 9.1×10(-7); rs17728338, p = 3.5×10(-5), respectively) whilst SNPs mapping to the TNFAIP3, TSC1 and RNF114 genes showed nominal evidence for association (rs610604, p = 0.03; rs1076160, p = 0.03; rs495337, p = 0.0025). No evidence for association with IL1RN or SMARCA4 was found but the power to detect association was low.
SNPs mapping to previously reported psoriasis loci show evidence for association to PSA, thus supporting the hypothesis that the genetic aetiology of skin involvement is the same in both PsA and psoriasis.
通过对全基因组关联研究中报道与银屑病相关的单核苷酸多态性(SNP)进行基因分型,研究银屑病和银屑病关节炎(PsA)皮肤受累的共同遗传病因。
对来自英国和爱尔兰的 PsA 病例和对照集合中具有与银屑病相关的报道证据的 SNP 进行基因分型。使用 Armitage 趋势检验比较 PsA 病例和对照组之间的基因型和等位基因频率。
成功对 7 个 SNP(位于 IL1RN、TNIP1、TNFAIP3、TSC1、IL23A、SMARCA4 和 RNF114 基因)进行基因分型。IL23A 和 TNIP1 基因显示出令人信服的关联证据(rs2066808,p=9.1×10(-7);rs17728338,p=3.5×10(-5)),而 TNFAIP3、TSC1 和 RNF114 基因映射的 SNP 则显示出名义上的关联证据(rs610604,p=0.03;rs1076160,p=0.03;rs495337,p=0.0025)。未发现与 IL1RN 或 SMARCA4 相关的证据,但检测关联的能力较低。
映射到先前报道的银屑病基因座的 SNP 显示出与 PSA 的关联证据,因此支持皮肤受累的遗传病因在 PsA 和银屑病中相同的假说。