IKBKE和FYB基因单核苷酸多态性与云南汉族系统性红斑狼疮的相关性研究

发布时间：2018-05-12 14:04

  本文选题：系统性红斑狼疮 + 单核苷酸多态性　； 参考：《云南大学》2015年硕士论文

【摘要】：背景：系统性红斑狼疮(Systemic lupus erythematosus, SLE)作为一种复杂的自身免疫性疾病,患者表现自身抗体的产生、补体活化、免疫复合物沉积以及组织和器官损伤等特征。其发病机制目前尚未明确,但遗传因素在其发病过程中发挥着重要的作用。最近有文献报道IKBKE基因与瑞典人和美国人SLE易感性相关,FYB基因与巴西人群SLE易感性相关。考虑到SLE的发病存在种族及地域差异性,本研究选取IKBKE基因的三个SNP位点(rs12724769, rs3748022,rs17433930)和FYB基因的两个SNP位点(rs10941427, rs358501),研究IKBKE和FYB两个基因的单核苷酸多态性与云南汉族SLE发生的相关性。 方法：本研究共1166例汉族样本均采自昆明医学院第二附属医院,其中系统性红斑狼疮536例,健康对照630例。用酚氯仿法提取DNA,采用PCR-RFLP方法对IKBKE和FYB两个基因的5个SNP位点进行分型,并用HaploView4.1和SPSS11.5软件对分型结果进行相关性分析。 结果： 1.IKBKE1基因rs3748022位点T与云南汉族人群SLE的发病具有相关性,并且T可能为SLE的保护因素(P=0.031,OR=0.816)；性别分层分析显示：rs3748022T与云南汉族女性人群SLE的发病具有相关性,且为保护因素(P=0.013,OR=0.781)；显性模式下(CT-TT)基因型为云南汉族人群SLE的保护因素(P=0.047,OR=0.795)。 2.IKBKE基因rs17433930与云南汉族人群SLE的发生有极显著的关联性,且等位基因G (P=0.0017, OR=0.285)为系统性红斑狼疮的保护因素；性别分层分析显示以上关联性仍然存在；隐性遗传模式下GG基因型为云南汉族人群SLE的保护性因素(P=0.0087,OR=0.173)。 3.FYB基因rs10941427在超显性遗传模式下与云南汉族人群SLE的发生有相关性,CG基因型为SLE的保护因素(P=0.024,OR=0.767)。 结论： IKBKE基因的rs3748022和rs17433930及FYB基因的rs10941427可能与云南汉族人群系统性红斑狼疮具有相关性。
[Abstract]:Background: Systemic lupus erythematosus (SLE), as a complex autoimmune disease, is characterized by the appearance of autoantibodies, complement activation, deposition of immune complex, tissue and organ damage. The pathogenesis is not yet clear, but the genetic factors play an important role in the process of its disease. Recent literature reports that the IKBKE gene is related to the susceptibility of the Swedish and American SLE. The FYB gene is associated with the susceptibility to SLE in Brazil population. Considering the racial and regional differences in the incidence of SLE, this study selects the two loci of the three SNP loci of the IKBKE gene (rs12724769, rs3748022, rs17433930) and FYB genes. (rs358501) to study the association between single nucleotide polymorphisms of two genes IKBKE and FYB and the occurrence of SLE in Han nationality in Yunnan.
Methods: 1166 cases of Han nationality were collected from the Second Affiliated Hospital of Kunming Medical University, including 536 cases of systemic lupus erythematosus and 630 healthy controls. DNA was extracted with phenol chloroform, and 5 SNP sites of two genes of IKBKE and FYB were typed by PCR-RFLP, and the results were related to the results of HaploView4.1 and SPSS11.5. Sex analysis.
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本文编号：1878904