Lee Y H, Rho Y H, Choi S J, Ji J D, Song G G, Nath S K, Harley J B
Division of Rheumatology, Department of Internal Medicine, Korea University Medical Center, Seoul, Korea.
Rheumatology (Oxford). 2007 Jan;46(1):49-56. doi: 10.1093/rheumatology/kel170. Epub 2006 Jun 7.
To assess whether combined evidence shows the association between the protein tyrosine phosphatase non-receptor 22 (PTPN22) C1858T polymorphism and autoimmune diseases, and to summarize the effect size of the polymorphism associated with susceptibility of autoimmune diseases.
We surveyed studies on the PTPN22 C1858T polymorphism and autoimmune diseases using comprehensive Medline search and review of the references. Meta-analysis was performed for genotypes T/T (recessive effect), T/T + C/T (dominant effect) and T-allele in random effects models.
Twenty-nine studies with 43 comparisons including 13 rheumatoid arthritis (RA), six systemic lupus erythematosus (SLE), six type-1 DM (T1D), three Grave's disease (GD), four inflammatory bowel diseases (IBD), three juvenile idiopathic arthritis (JIA), two psoriasis, two multiple sclerosis, two Addison's disease and two Celiac disease were available for the meta-analysis. The overall odds ratios (ORS) for T-allele, T/T and T/T + C/T genotypes were significantly increased in RA, SLE, GD and T1D (OR for T-allele = 1.58, 1.49, 1.85, 1.61, respectively, P < 0.00001). This meta-analysis showed the association between the T-allele and the T/T genotype and JIA (OR = 1.34, P = 0.03; OR = 1.97, P = 0.02) but did not reveal the association between the PTPN22 C1858T polymorphism and IBD, psoriasis, multiple sclerosis, Addison's disease and Celiac disease.
This meta-analysis demonstrates that the PTPN22 1858T allele confers susceptibility to RA, SLE, GD, T1D and JIA, supporting evidence of association of the PTPN22 gene with subgroup of autoimmune diseases.
评估综合证据是否显示蛋白酪氨酸磷酸酶非受体22（PTPN22）C1858T多态性与自身免疫性疾病之间的关联，并总结该多态性与自身免疫性疾病易感性相关的效应大小。
我们通过全面检索Medline并查阅参考文献，对PTPN22 C1858T多态性与自身免疫性疾病的研究进行了调查。在随机效应模型中，对基因型T/T（隐性效应）、T/T + C/T（显性效应）和T等位基因进行了荟萃分析。
共有29项研究，包含43组比较，其中13项类风湿关节炎（RA）研究、6项系统性红斑狼疮（SLE）研究、6项1型糖尿病（T1D）研究、3项格雷夫斯病（GD）研究、4项炎症性肠病（IBD）研究、3项幼年特发性关节炎（JIA）研究、2项银屑病研究、2项多发性硬化症研究、2项艾迪生病研究和2项乳糜泻研究可用于荟萃分析。在RA、SLE、GD和T1D中，T等位基因、T/T和T/T + C/T基因型的总体优势比（OR）显著升高（T等位基因的OR分别为1.58、1.49、1.85、1.61，P < 0.00001）。该荟萃分析显示T等位基因和T/T基因型与JIA之间存在关联（OR = 1.34，P = 0.03；OR = 1.97，P = 0.02），但未揭示PTPN22 C1858T多态性与IBD、银屑病、多发性硬化症、艾迪生病和乳糜泻之间的关联。
该荟萃分析表明，PTPN22 1858T等位基因赋予了对RA、SLE、GD、T1D和JIA的易感性，支持了PTPN22基因与自身免疫性疾病亚组之间存在关联的证据。
