Sahin N, Bicakcigil M, Atagunduz P, Direskeneli H, Saruhan-Direskeneli G
Division of Rheumatology, Department of Internal Medicine, Marmara University Medical School, Istanbul, Turkey.
Tissue Antigens. 2007 Nov;70(5):432-4. doi: 10.1111/j.1399-0039.2007.00928.x. Epub 2007 Sep 16.
A functional single nucleotide polymorphism (SNP) of PTPN22 gene encoding the protein tyrosine phosphatase has been reported to be associated with autoimmune disorders such as rheumatoid arthritis, systemic lupus erythematosus and type I diabetes. PTPN22 R620W polymorphism has a wide variation of allelic frequencies among different populations. This polymorphism is investigated in Turkish patients with Behçet's disease (BD), a systemic vasculitis with immune activation. DNA samples from 134 patients with BD and 177 healthy controls are genotyped by polymerase chain reaction (PCR)-restriction fragment length polymorphism method for the SNP (rs2476601, A/G) of PTPN22 gene. Polymorphic region was amplified by PCR and digested with XcmI enzyme. The frequency of heterozygous genotype (AG) was 5.1% (9/177) in control group, whereas polymorphic allele was not present in the whole BD group (P = 0.012, OR 0.65, 95% confidence interval 0.0-1.1). Both the lower prevalence in the general population and the absence in BD show the limited role of PTPN22 polymorphism in the pathogenesis of autoimmunity in Turkey.
据报道，编码蛋白酪氨酸磷酸酶的PTPN22基因的一个功能性单核苷酸多态性（SNP）与自身免疫性疾病有关，如类风湿性关节炎、系统性红斑狼疮和I型糖尿病。PTPN22 R620W多态性在不同人群中的等位基因频率有很大差异。在患有贝赫切特病（BD）的土耳其患者中对这种多态性进行了研究，BD是一种伴有免疫激活的系统性血管炎。采用聚合酶链反应（PCR）-限制性片段长度多态性方法对134例BD患者和177例健康对照的DNA样本进行PTPN22基因SNP（rs2476601，A/G）基因分型。通过PCR扩增多态性区域并用XcmI酶进行消化。对照组中杂合基因型（AG）的频率为5.1%（9/177），而整个BD组中不存在多态性等位基因（P = 0.012，比值比0.65，95%置信区间0.0 - 1.1）。在一般人群中的较低患病率以及在BD患者中的缺失均表明PTPN22多态性在土耳其自身免疫发病机制中的作用有限。
