浅论EXT2基因多态性与南方人2型糖尿病的相关性研究.docx

浅论EXT2基因多态性与南方人2型糖尿病的相关性研究
【摘要】目的：探讨EXT2基因多态性与2型糖尿病及其代谢指标的相关性。方法：研究对象均来自于上海地区，其中糖尿病患者共286例，正常人300例。RFLP法检测基因位点rs3740878,rs11037909和rs1113132的多态性。HardyWeinberg平衡法检测基因型的频率，同时对糖尿病组和正常组的代谢指标进行比较。结果：对于rs3740878位点：2型糖尿病组A等位基因和AA基因型的频率分别为71%,%，显着高于正常组，AA基因型患糖尿病的风险是GG基因型的倍；同样对于位点rs11037909：2型糖尿病组TT基因型的频率为%显着高于正常组%(χ2=,1)，2型糖尿病组T基因的频率%显着高于正常组%。杂合体CT基因型和纯合体TT基因型患2型糖尿病的风险分别是CC基因型的倍(OR=,95%CI：,χ2=,P=)和倍(OR=,95%CI：,χ2=,P=)。但是并没有发现这两个基因位点多态性与代谢指标之间有相关性，同样对于rs1113132位点来说，基因型与等位基因的分布在正常组和糖尿病组并没有显着的统计学差异。结论:基因EXT2两个多态性位点(rs3740878)和(rs11037909)中的等位基因A和T与中国南方人的2型糖尿病有显着的相关性，而位点rs1113132的多态性可能与中国南方人的2型糖尿病无关。【关键词】2型糖尿病；单核苷酸多态性；EXT2基因［Abstract］Objective:ToinvestigatetheassociationofEXT2genepolymorphisms(rs3740878,rs11037909,rs1113132）withtype2diabetesmellitusandtherelevantmetabolicparameters.Methods：Atotalof286caseswithtype2diabetesmellitus(type2diabetesgroup)and300normalgroup(NCgroup)fromShanghaiareawereusedinthestudy.Polymorphismsofrs3740878,rs11037909andrs1113132weredeterminedbypolymerasechainreactionrestrictionfragmentlengthpolymorphism(PCRRFLP)assaywiththegenomicDNA.ThegenotypefrequencywasanalyzedbyHardyWeinbergdisequilibrium.Meanwhilethemetabolicparameterswerecomparedbetweenthetwogroups.Results:ThefrequenciesofAalleleandAAgenotypeofrs3740878intype2diabetesgroupwere71%and%,andweresignificantlyhigherthanthoseinNCgroup(%and%,or).Theriskoftype2diabetesforthosecarryingAallelewastimeshigherthanthosecarryingGallele(OR=,95%CI:,P=).AscomparedwiththepeoplewithGGgenotype,thosewithAAgenotypeshowedtimesincreasedriskoftype2diabetes(OR=,95%CI:,χ2=,P=).Similarly,asforrs11037909theTT(%)genotypeintype2diabeteswassignificantlyhigherthannormal(%)group(χ2=,1),thealleleofT(%)intype2diabeteswasalsohigherthanthenormal(%)group(χ2=,1).Comparedwithhomozygotes(CC)theheterozygotes(CT)increasessusceptibilitytotype2diabetes(OR=,95%CI:,χ2=,P=)timesandcomparedwithhomozygotes(CC)thehomoozygotes(TT)increasessusceptibilitytotype2diabetes(OR=,95%CI:,χ2=,P=)times.HoweverwefoundnoassociationbetweenthetwoSNPsandmetab