本文選題：系統(tǒng)性紅斑狼瘡 + 單核苷酸多態(tài)性��； 參考：《云南大學(xué)》2015年碩士論文

【摘要】：背景：系統(tǒng)性紅斑狼瘡(Systemic lupus erythematosus, SLE)作為一種復(fù)雜的自身免疫性疾病,患者表現(xiàn)自身抗體的產(chǎn)生、補(bǔ)體活化、免疫復(fù)合物沉積以及組織和器官損傷等特征。其發(fā)病機(jī)制目前尚未明確,但遺傳因素在其發(fā)病過(guò)程中發(fā)揮著重要的作用。最近有文獻(xiàn)報(bào)道IKBKE基因與瑞典人和美國(guó)人SLE易感性相關(guān),FYB基因與巴西人群SLE易感性相關(guān)�？紤]到SLE的發(fā)病存在種族及地域差異性,本研究選取IKBKE基因的三個(gè)SNP位點(diǎn)(rs12724769, rs3748022,rs17433930)和FYB基因的兩個(gè)SNP位點(diǎn)(rs10941427, rs358501),研究IKBKE和FYB兩個(gè)基因的單核苷酸多態(tài)性與云南漢族SLE發(fā)生的相關(guān)性。 方法：本研究共1166例漢族樣本均采自昆明醫(yī)學(xué)院第二附屬醫(yī)院,其中系統(tǒng)性紅斑狼瘡536例,健康對(duì)照630例。用酚氯仿法提取DNA,采用PCR-RFLP方法對(duì)IKBKE和FYB兩個(gè)基因的5個(gè)SNP位點(diǎn)進(jìn)行分型,并用HaploView4.1和SPSS11.5軟件對(duì)分型結(jié)果進(jìn)行相關(guān)性分析。 結(jié)果： 1.IKBKE1基因rs3748022位點(diǎn)T與云南漢族人群SLE的發(fā)病具有相關(guān)性,并且T可能為SLE的保護(hù)因素(P=0.031,OR=0.816)；性別分層分析顯示：rs3748022T與云南漢族女性人群SLE的發(fā)病具有相關(guān)性,且為保護(hù)因素(P=0.013,OR=0.781)；顯性模式下(CT-TT)基因型為云南漢族人群SLE的保護(hù)因素(P=0.047,OR=0.795)。 2.IKBKE基因rs17433930與云南漢族人群SLE的發(fā)生有極顯著的關(guān)聯(lián)性,且等位基因G (P=0.0017, OR=0.285)為系統(tǒng)性紅斑狼瘡的保護(hù)因素；性別分層分析顯示以上關(guān)聯(lián)性仍然存在；隱性遺傳模式下GG基因型為云南漢族人群SLE的保護(hù)性因素(P=0.0087,OR=0.173)。 3.FYB基因rs10941427在超顯性遺傳模式下與云南漢族人群SLE的發(fā)生有相關(guān)性,CG基因型為SLE的保護(hù)因素(P=0.024,OR=0.767)。 結(jié)論： IKBKE基因的rs3748022和rs17433930及FYB基因的rs10941427可能與云南漢族人群系統(tǒng)性紅斑狼瘡具有相關(guān)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.
Result錛，

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