Skonieczna Katarzyna, Czajkowski Rafał, Kaszewski Sebastian, Gawrych Mariusz, Jakubowska Aneta, Grzybowski Tomasz
Division of Molecular and Forensic Genetics, Department of Forensic Medicine, Faculty of Medicine, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.
Department of Dermatology, Sexually Transmitted Diseases and Immunodermatology, Faculty of Medicine, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.
Postepy Dermatol Alergol. 2017 Jun;34(3):228-232. doi: 10.5114/pdia.2017.67479. Epub 2017 May 29.
Many studies have shown that some SNPs might be a risk factor for systemic lupus erythematosus (SLE), but little is known about potential susceptibility loci of the skin types of the disease. Discoid lupus erythematosus (DLE) is the most common form of the cutaneous lupus erythematosus. Nevertheless, a genetic contribution to DLE is not fully recognized.
We aimed to analyze three SNPs located in the (rs7574865), (rs1143679) and (rs1150754) genes in both DLE and SLE patients from Poland.
SNPs were genotyped using real-time polymerase chain reaction (PCR). Statistical significance of the differences between patient and control groups in both allele and genotype frequencies were calculated using two tailed Fisher's exact test. The correction for multiple testing by the Bonferroni adjustment and odds ratio were also calculated.
For the first time, we have shown that the polymorphisms located in the (rs7574865), but not in the (rs1143679) nor the (rs1150754) genes, might be associated with the development of DLE within the Polish population. The variation of the three investigated SNPs was found to be associated with SLE in our dataset.
The results of our study suggest differences in the molecular background between DLE and SLE within the Polish population.
许多研究表明，一些单核苷酸多态性（SNP）可能是系统性红斑狼疮（SLE）的危险因素，但对于该疾病皮肤类型的潜在易感基因座知之甚少。盘状红斑狼疮（DLE）是皮肤红斑狼疮最常见的形式。然而，DLE的遗传因素尚未得到充分认识。
我们旨在分析位于波兰DLE和SLE患者的 （rs7574865）、 （rs1143679）和 （rs1150754）基因中的三个SNP。
使用实时聚合酶链反应（PCR）对SNP进行基因分型。使用双侧Fisher精确检验计算患者组和对照组在等位基因和基因型频率上差异的统计学显著性。还计算了通过Bonferroni校正进行多重检验的校正值和比值比。
我们首次表明，位于 （rs7574865）基因中的多态性可能与波兰人群中DLE的发生有关，而位于 （rs1143679）和 （rs1150754）基因中的多态性则不然。在我们的数据集中，发现所研究的三个SNP的变异与SLE有关。
我们的研究结果表明波兰人群中DLE和SLE在分子背景上存在差异。
