PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases
PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases
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DOI：
10.1038/sj.gene.6364261
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发表时间：
2005-10-01
影响因子：
5
通讯作者：
Martín, J
中科院分区：
文献类型：
--
作者：
Gomez, LM;Anaya, JM;Martín, J
蛋白质酪氨酸磷酸酶非受体 22 (PTPN22) 基因中的功能性单核苷酸多态性 (SNP) C1858T 编码对 T 细胞活化具有负调节作用的细胞内磷酸酶，与白种人的一些自身免疫性疾病相关。首先考虑到 SNP 频率可能因人群而异，其次考虑到复制研究对于确认先前的关联非常重要，我们检查了 621 名患有四种自身免疫性疾病的哥伦比亚患者中 PTPN22 多态性的影响。因此，对 298 名类风湿性关节炎 (RA) 患者、143 名系统性红斑狼疮 (SLE) 患者、70 名原发性干燥综合征 (pSS) 患者和 110 名 1 型糖尿病 (T1D) 患者进行了研究。对照组由 308 名匹配的健康个体组成。 PTPN22的基因分型是通过实时聚合酶链式反应技术，使用TaqMan 50'等位基因辨别测定法进行的。 1858 T 等位基因被发现是 pSS（比值比 (OR) = 2.42）、SLE (OR 2.56) 和 T1D (OR 1.83) 的危险因素。 RA 观察到较低但不显着的趋势（OR = 1.26）。这些结果证实了 PTPN22 在自身免疫中的影响，并表明自身免疫表型可以代表类似免疫遗传学机制基础的非特异性疾病基因的多效性结果。
A functional single nucleotide polymorphism (SNP) C1858T in the protein tyrosine phosphatase nonreceptor 22 ( PTPN22) gene encoding an intracellular phosphatase with negative regulatory effects on T-cell activation is associated with some autoimmune diseases in Caucasians. Taking into account firstly, that SNP frequencies may vary across populations and, secondly, that replication studies are important to confirm previous associations, we examined the influence of PTPN22 polymorphism in 621 Colombian patients with four autoimmune diseases. Accordingly, 298 patients with rheumatoid arthritis (RA), 143 with systemic lupus erythematosus (SLE), 70 with primary Sjogren's syndrome (pSS) and 110 with Type 1 diabetes (T1D) were studied. The control group consisted of 308 matched healthy individuals. Genotyping of PTPN22 was performed by the real-time polymerase chain reaction technology, using the TaqMan 50'allele discrimination assay. The 1858 T allele was found to be a risk factor for pSS (odds ratio (OR) = 2.42), SLE (OR 2.56), and T1D (OR 1.83). A lower but nonsignificant trend was observed for RA (OR = 1.26). These results confirm the influence of PTPN22 in autoimmunity and indicate that autoimmune phenotypes could represent pleiotropic outcomes of nonspecific disease genes that underlie similar immunogenetic mechanisms.