关节病型银屑病与强直性脊柱炎易感基因关联研究

Susceptibility loci of ankylosing spondylitis in patients with psoriatic arthritis

目的:对关节病型银屑病与强直性脊柱炎的易感基因进行关联分析,以期发现共同的易感基因。方法:以379例关节病型银屑病(PsA)、595例寻常型银屑病(PsV)及806例健康对照为样本,以Sequenom MassA RRAY系统为平台,对全基因组关联研究发现的强直性脊柱炎的9个易感基因SNP位点进行基因分型和数据分析。结果:ERAP1基因(rs27037,P=6.66×10-5,OR:1.43)、21q22.2(rs2242944,P=1.07×10-3,OR:0.73)及IL23R基因(rs1004819,P=4.58×10-3,OR:1.28)与PsA相关。ERAP1(rs27037,P=1.56×10-4,OR:1.35)与PsV相关。ERAP1基因对于PsA和PsV的患病风险无差异。IL23R基因(rs1004819)及21q22.2(rs2242944)在PsA和PsV患病风险上存在中等程度的异质性(I2值分别为57.41和71.20),但P值无明显差异(>0.05)。IL23R基因(rs11209032,P=1.57×10-3,OR:1.52)与PsA脊柱炎相关。结论:ERAP1基因、21q22.2区域及IL23R基因是PsA与强直性脊柱炎共有的易感基因。

Objective： To determine the susceptibility loci of ankylosing spondylitis found by GWAS in patients with psoriatic arthritis（ PsA）. Methods： Nine susceptibility SNPs of ankylosing spondylitis were genotyped in 379 patients with PsA,595 patients with psoriasis vulgaris（ PsV） and 806 healthy controls by Sequenom MassA RRAY. Results： ERAP1（ rs27037,P = 6. 66 × 10- 5,OR： 1. 43）,chromosome 21q22. 2（ rs2242944,P = 1. 07 × 10- 3,OR： 0. 73） and IL23R（ rs1004819,P = 4. 58 × 10- 3,OR： 1. 28） were significant association with susceptibility of PsA. ERAP1（ rs27037,P = 1. 56 × 10- 4,OR： 1. 35） associated with PsV. There was no heterogeneity of ERAP1（ rs27037） between PsA and PsV groups and there was a heterogeneity of chromosome 21q22. 2（ rs2242944） and IL23R（ rs1004819） between them. IL23R（ rs11209032） was found to be associated with axial PsA（ P = 1. 57 × 10- 3,OR： 1. 52）. Conclusion： ERAP1,21q22. 2 domain and IL23 R are common susceptibility genes of both PsA and ankylosing spondylitis.