摘要
目的:研究IgA肾病临床多样性产生的基因背景。方法:对103名正常人和97例IgA肾病患者IL-1受体拮抗剂(IL-1ra)和TNF-α基因的多态性进行了分析。结果:发现IL1RN·1和IL1RN·2等位基因在正常人和IgA肾病患者中的分布差异不明显。但IL1RN·2等位基因在反复发作性肉眼血尿患者中的发生率明显高于其他患者。TNF-α基因点突变的发生率在正常人为3.9%,在IgA肾病患者为1.0%。由于TNF-α基因点突变在人群中发生率很低,本文未对其进行进一步分析。结论:反复发作性肉眼血尿型IgA肾病患者在其症状发作前往往合并有上呼吸道感染,可能与IL1RN·2等位基因的高携带率有关。进一步阐明IL1RN·2等位基因与IgA肾病临床症候及预后的联系。
BJECTIVESTheinvestigationofgenotype-phenotypecorelationmaybehelpfulforunderstandingtheclinicaldiversityofIgAnephropathy.Thereisgrowingevidencethatinterlukin-1(IL-1)andtumornecrosisfactor-α(TNF-α)playacriticalroleasmediatorsofinflammationandasprogresionfactorsinvariousrenaldiseases,especialyinthemesangialproliferationandcrescentformation.Thepolymor-phismintheIL-1receptorantagonist(IL-1ra)andTNF-αgenesareasociatedwiththevariationofcir-culatorylevelsofIL-1raandTNF-α.METHODOLOGYThepolymorphismsofIL-1raandTNF-αgeneshavebeenanalyzedin103normalcontroland97IgAnephropathybyPCRinthepresentstudy.RESULTSIthasbeenfoundthatthereisnosignificantdiferenceinthefrequenciesofIL1RN·1andIL1RN·2betweennormalcontrolandIgAnephropathy.However,patientswithrecurentgroshemoturiashowedamarkedlyincrementinthecariagerateofIL1RN·2.Thefrequencyofpointmu-tationin-308ofTNF-αgeneis3.9%innormalcontroland1.0%inIgAnephropathy.CONCLUSIONSThesefindingssuggestthattheseisapossibleasociationbetwenthehighercar-riagerateofIL1RN·2andtherelapseofgroshematuriainIgAnephropathy.TheexactmechanismswherebythegenepolymorphismofIL-1raimpacttheclinicalvariationandprogresioninIgAnephropa-thyremaintobeelucidated.
出处
《肾脏病与透析肾移植杂志》
CAS
CSCD
1996年第6期1-4,共4页
Chinese Journal of Nephrology,Dialysis & Transplantation