ets1 ikzf1基因多态性与汉族人系统性红斑狼疮表型的相关性研究word格式论文.docx

者间IKZF1 基因SNPrs4917014等位基因分布有统计学意义。3.病例组和对照组等位基因分布有统计学意义。结论1.ETS1基因rs6590330多态性与SLE的发病年龄有关2.IKZF1基因rs4917014 多态性与SLE蝶形红斑及肾脏受累有关3.ETS1基因rs6590330、IKZF1基因rs4917014多态性与中国汉族人系统性红斑狼疮易感性相关关键词系统性红斑狼疮汉族易感基因表型AbstractETS1 and IKZF1 are Associated with Clinical Features of Systemic Lupus Erythematosus in Chinese Han PopulationBackgroundSystemiclupuserythematosus(SLE)isanautoimmunediseasewithheterogeneousclinicalmanifestationsinfluencedbygeneticandenvironmentalfactors.Wehaveidentifiedtwonovelsusceptibilitygenes(ETS1andIKZF1)forSLEinarecentgenome-wideassociationstudy(GWAS)ofChineseHanpopulation.ObjectiveWeinvestigatedthetwoSNPsrelationshipswithdiseasesubphenotypes,includingrenalnephritis,photosensitivity,ANA,ageatdiagnosis,malarrash,discoidrash,immunological disorder, oral ulcer, hematological disorder,neurological disorder, serositis,arithritisandvasculitisinordertofurtherexplorethegeneticspathogenesisandbringhopetodevelopenewtreatmentsofetiology.Methods4199 unrelated cases and8255 unrelatedcontrolswere involved in this study.Genotypedataofrs4917014andrs6590330wereobtainedfromthepreviousGWAS forSLE.TheappropriateapplicationofsocialsciencestatisticalsoftwarepackagePLINK1.03wasusedforstatisticalanalysisofdata.Results1Ageofonsetgreaterthanorequal20yearsofageandlessthan20-year-oldSLEpatientswithETS1geneSNPrs6590330allelewasstatisticallysignificant.2.Therenephritis(OR=1.13,P=0.02)anddiscoiderythema(OR=0.83,P=0.00038) inpatientswithnon-nephritisandinpatientswithdiscoiderythemabetweenIKZF1 geneSNPrs4917014allelewasstatisticallysignificant.3.Theallelefrequencyofrs6590330andrs4917014polymorphismwithinETS1、IKZF1genewereofstatisticalsignificancebetweenthecasesandthecontrols.Conclusions1Theallelefrequencyofrs6590330(ETS1)wassignificantlydifferentbetweentheearlyonset(20y)andlateonsetcases(≥20y);2Theallelefrequencyof rs4917014(IKZF1)wassignificantlydifferentintwosubphenotypes:renalnephritis(OR=1.13,95%CI:1.02-1.24,P=0.02)andmalarrash(OR=0.83,95%CI:0.75-0.92,P=0.00038).3.rs6590330ofETS1,rs49