Płoski Rafał, Dziunycz Piotr, Kostrzewa Grazyna, Roszkowski Piotr I, Barcz Ewa, Zabek Jakub, Milewski Łukasz, Kamiński Paweł, Malejczyk Jacek
Department of Medical Genetics, Centre of Biostructure Research, Warsaw Medical University, Warsaw, Poland.
J Reprod Immunol. 2009 Jan;79(2):196-200. doi: 10.1016/j.jri.2008.11.004. Epub 2009 Feb 23.
Endometriosis is a common gynaecological disorder due to ectopic implantation of endometrial tissue. It is manifested by pelvic inflammation and abrogation of cell-mediated immunity and may be also characterised by autoantibody production, thus suggesting that endometriosis might be an autoimmune disorder. Genetic factors also play a role in the aetiopathogenesis of this disease. Therefore, the present study was aimed at testing the association of endometriosis with the PTPN22/LYP 1858C> T gene polymorphism, which appears to be related to the development of a variety of autoimmune disorders. The study included 171 Polish patients of Caucasian origin with laparoscopically and histopathologically confirmed endometriosis and 310 unrelated, ethnically matched control individuals. DNA and serum were isolated from the peripheral blood. The PTPN22/LYP 1858C> T polymorphism was typed using a PCR-RFLP method. Anti-nuclear (ANA) and anti-cardiolipin (ACA) autoantibodies were detected by the Hep-2 indirect immunofluorescence test and a specific ELISA respectively. No statistically significant differences were found in distribution of C and T PTPN22/LYP alleles and genotypes in patients with endometriosis compared with the control population. However, on exploratory analyses we noted that the PTPN22/LYB T allele and the TT genotype may be associated with the prevalence of double positivity for ANA and ACA (p=0.003 by chi(2) test for trend and p=0.009 by Fisher's exact test respectively). The results of the present study show that endometriosis in a Polish population is not associated with the PTPN22/LYP 1858C> T gene polymorphism. The putative effect of the PTPN22/LYP genotype on the development of autoantibodies is potentially interesting, but it should be verified in further studies.
子宫内膜异位症是一种常见的妇科疾病，由子宫内膜组织异位植入引起。其表现为盆腔炎症和细胞介导免疫的废除，也可能以自身抗体产生为特征，因此提示子宫内膜异位症可能是一种自身免疫性疾病。遗传因素在该疾病的病因发病机制中也起作用。因此，本研究旨在检测子宫内膜异位症与PTPN22/LYP 1858C>T基因多态性的关联，该多态性似乎与多种自身免疫性疾病的发生有关。该研究纳入了171名来自波兰的白种人患者，经腹腔镜和组织病理学确诊为子宫内膜异位症，以及310名无亲缘关系、种族匹配的对照个体。从外周血中分离出DNA和血清。使用PCR-RFLP方法对PTPN22/LYP 1858C>T多态性进行分型。分别通过Hep-2间接免疫荧光试验和特异性ELISA检测抗核抗体（ANA）和抗心磷脂抗体（ACA）。与对照组相比，子宫内膜异位症患者中C和T PTPN22/LYP等位基因及基因型的分布未发现统计学上的显著差异。然而，在探索性分析中，我们注意到PTPN22/LYB T等位基因和TT基因型可能与ANA和ACA双阳性的患病率相关（趋势的卡方检验p=0.003，Fisher精确检验p=0.009）。本研究结果表明，波兰人群中的子宫内膜异位症与PTPN22/LYP 1858C>T基因多态性无关。PTPN22/LYP基因型对自身抗体产生的假定影响可能很有趣，但应在进一步研究中加以验证。
