Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, The First Affiliated Hospital of Chongqing Medical University, Chongqing, People's Republic of China.
PLoS One. 2012;7(3):e31230. doi: 10.1371/journal.pone.0031230. Epub 2012 Mar 2.
Behcet's disease is known as a recurrent, multisystem inflammation and immune-related disease. Protein tyrosine phosphatase non-receptor 22 (PTPN22) is a key negative regulator of T lymphocytes and polymorphisms of the PTPN22 gene have been shown to be associated with various immune-related diseases. The present study was performed to assess the association between PTPN22 polymorphisms and Behcet's disease in two Chinese Han populations.
METHODOLOGY/PRINCIPAL FINDINGS: A total of 516 patients with ocular Behcet's disease and 690 healthy controls from two Chinese Han populations were genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method for three single nucleotide polymorphisms (SNPs). Hardy-Weinberg equilibrium was tested using the χ(2) test. Genotype frequencies were estimated through direct counting. Allele and genotype frequencies were compared between patients and controls using logistic regression analysis. The results revealed that there was no association between the tested three PTPN22 SNPs (rs2488457, rs1310182 and rs3789604) and ocular Behcet's disease (p>0.05). Categorization analysis according to the clinical features did not show any association of these three polymorphisms with these parameters (p>0.05).
CONCLUSIONS/SIGNIFICANCE: The investigated PTPN22 gene polymorphisms (rs2488457, rs1310182 and rs3789604) were not associated with ocular Behcet's disease in two Chinese Han populations, and showed that it may be different from other classical autoimmune diseases. More studies are needed to confirm these findings for Behcet's disease in other ethnic backgrounds.
贝赫切特病（Behcet's disease）是一种已知的复发性、多系统炎症和免疫相关疾病。蛋白酪氨酸磷酸酶非受体 22（PTPN22）是 T 淋巴细胞的关键负调节因子，其基因多态性已被证明与多种免疫相关疾病有关。本研究旨在评估两个中国汉族人群中 PTPN22 多态性与贝赫切特病之间的关联。
方法/主要发现：采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对来自两个中国汉族人群的 516 例眼型贝赫切特病患者和 690 名健康对照者进行了三个单核苷酸多态性（SNP）的基因分型。采用卡方检验（χ(2) test）检验 Hardy-Weinberg 平衡。通过直接计数法估计基因型频率。采用 logistic 回归分析比较患者和对照组之间的等位基因和基因型频率。结果显示，所检测的三个 PTPN22 SNP（rs2488457、rs1310182 和 rs3789604）与眼型贝赫切特病之间无关联（p>0.05）。根据临床特征进行分类分析，也未发现这三个多态性与这些参数之间存在任何关联（p>0.05）。
结论/意义：在所研究的两个中国汉族人群中，PTPN22 基因多态性（rs2488457、rs1310182 和 rs3789604）与眼型贝赫切特病无关，表明其与其他经典自身免疫性疾病可能不同。需要更多的研究来证实这些发现，以了解其他种族背景下的贝赫切特病。
