Pazár B, Gergely P, Nagy Z B, Gombos T, Pozsonyi E, Rajczy K, Balogh Z, Sevcic K, Orbán I, Szodoray P, Poór G
National Institute of Rheumatology and Physiotherapy, Budapest, Hungary.
Clin Exp Rheumatol. 2008 Nov-Dec;26(6):1146-52.
Juvenile idiopathic arthritis (JIA) is a complex immune-mediated disease characterized by environmental influences along with several predisposing genes in the pathogenesis. The present study was undertaken to investigate the association of polymorphisms in two candidate genes for autoimmunity, human leukocyte antigen (HLA) DRB1 and protein tyrosine phosphatase N22 (PTPN22) with JIA in Hungarian patients.
A case-control study including 150 Hungarian JIA patients and 200 sex and ethnically matched healthy controls was conducted. Genotyping for HLA-DRB1 and PTPN22 C1858T single nucleotide polymorphism (SNP) (rs2476601) was carried out by group-specific PCR amplification and by real-time PCR allelic discrimination, respectively.
In Hungarian patients JIA was associated with HLA-DRB101, DRB108, DRB1*13 (p=0.048, p=0.002, p=0.019, respectively) with marked differences between the disease subtypes classified according to the ILAR criteria. There was no association of the PTPN22 C1858T SNP with JIA (p=0.66). No correlation was found between the presence of this PTPN22 SNP and HLA-DRB1 alleles.
Our results confirm that certain HLA-DRB1 alleles reported previously as susceptibility factors are strongly associated with JIA in a Hungarian population. However, C1858T polymorphism of PTPN22, another candidate gene of autoimmunity seems to be independent of JIA in Hungarian patients. Our data taken together with various findings in different populations suggest that associations related to PTPN22 seem to be more ethnicity-specific in contrast to the general and less population-dependent role of HLA-DRB1 in JIA.
青少年特发性关节炎（JIA）是一种复杂的免疫介导疾病，其发病机制受环境因素以及多个易感基因的影响。本研究旨在调查匈牙利JIA患者中两个自身免疫候选基因——人类白细胞抗原（HLA）DRB1和蛋白酪氨酸磷酸酶N22（PTPN22）的多态性与JIA的关联。
开展了一项病例对照研究，纳入150名匈牙利JIA患者以及200名性别和种族匹配的健康对照。分别通过组特异性PCR扩增和实时PCR等位基因鉴别对HLA-DRB1和PTPN22 C1858T单核苷酸多态性（SNP）（rs2476601）进行基因分型。
在匈牙利患者中，JIA与HLA-DRB101、DRB108、DRB1*13相关（分别为p = 0.048、p = 0.002、p = 0.019），根据国际风湿病联盟（ILAR）标准分类的疾病亚型之间存在显著差异。PTPN22 C1858T SNP与JIA无关联（p = 0.66）。未发现该PTPN22 SNP的存在与HLA-DRB1等位基因之间存在相关性。
我们的结果证实，先前报道的某些作为易感因素的HLA-DRB1等位基因与匈牙利人群中的JIA密切相关。然而，自身免疫的另一个候选基因PTPN22的C1858T多态性在匈牙利患者中似乎与JIA无关。我们的数据以及不同人群中的各种研究结果表明，与PTPN22相关的关联似乎更具种族特异性，而HLA-DRB1在JIA中的作用更普遍且较少依赖人群。
Zotero 插件