Kaleta Beata, Mróz Piotr, Górski Andrzej, Łukaszkiewicz Jacek, Woźniacka Anna, Bogaczewicz Jarosław
Department of Clinical Immunology, Medical University of Warsaw, Warsaw, Poland.
Department of Biochemistry and Clinical Chemistry, Medical University of Warsaw, Warsaw, Poland.
Postepy Dermatol Alergol. 2020 Apr;37(2):190-194. doi: 10.5114/ada.2019.83499. Epub 2020 May 5.
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease caused by genetic, environmental, and still unknown factors which lead to deregulation of the immune system. Osteopontin (OPN) is a multifunctional glycoprotein, expressed in various cell types, and found to play key roles in immunity. OPN and variants of the OPN gene are involved in inflammatory conditions, however, their role in SLE are controversial.
To investigate the frequency of single nucleotide polymorphism (SNP) rs1126616 (707 C/T) variants in the OPN gene and its associations with SLE manifestations in Polish patients.
The study population consisted of 83 SLE patients and 100 gender-, age- and ethnically matched healthy controls. DNA was extracted from whole blood samples using the standard procedure. Genotyping was performed by real-time polymerase chain reaction (RT-PCR). The association between clinical features of SLE and 707 C/T genotypes was determined.
The mutant (CT, TT) genotypes were observed more frequently than the wild-type (CC) genotype in SLE patients compared to controls ( = 0.037). However, no association between 707 C/T variants and SLE clinical manifestations or laboratory parameters was found.
The present data suggest that CT and TT genotypes of OPN 707 C/T SNP are associated with a higher SLE risk, but do not affect the clinical course of the disease in the Polish population.
系统性红斑狼疮（SLE）是一种由遗传、环境以及仍不明的因素导致免疫系统失调而引起的慢性自身免疫性疾病。骨桥蛋白（OPN）是一种多功能糖蛋白，在多种细胞类型中表达，并在免疫中发挥关键作用。OPN及其基因变体参与炎症反应，然而，它们在SLE中的作用存在争议。
研究波兰患者中骨桥蛋白基因单核苷酸多态性（SNP）rs1126616（707 C/T）变体的频率及其与SLE临床表现的关联。
研究人群包括83例SLE患者和100例性别、年龄和种族匹配的健康对照。使用标准程序从全血样本中提取DNA。通过实时聚合酶链反应（RT-PCR）进行基因分型。确定SLE临床特征与707 C/T基因型之间的关联。
与对照组相比，SLE患者中突变型（CT、TT）基因型的观察频率高于野生型（CC）基因型（P = 0.037）。然而，未发现707 C/T变体与SLE临床表现或实验室参数之间存在关联。
目前的数据表明，OPN 707 C/T SNP的CT和TT基因型与较高的SLE风险相关，但不影响波兰人群中该疾病的临床进程。
