中国汉族人群CYP2J2和EPHX2基因多态性与2型糖尿病的相关性分析

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1、-华中科技大学硕士学位论文第一部分中国汉族人群CYP2J2和EPHX2基因多态性与2型糖尿病的相关性研究中文摘要【研究目的】CYP2J2和EPHX2常见的基因多态性与心血管疾病的相关性在不同种族中已被广泛研究，本研究的目的是在中国汉族人群中探究CYP2J2和EPHX2基因与2型糖尿病的关联性。【研究方法】对48个健康的受试者CYP2J2和EPHX2基因直接测序。采用TaqMan-MGB探针法，在包括1135个2型糖尿病病例和1138个正常对照的样本中，对上述测序结果的纳入位点经行了基因分型。并在单核甘酸多态性和单体型水平在比例对照资料中进行了关联分析。【实验结果

2、】对CYP2J2和EPHX2基因直接测序尚未发现新的具有功能意义的位点。基因分型的数据显示入选的SNPs(rs890293、rs751141和rs1126452)在比例对照中的等位基因频率和基因型分布没有显著性差异，logistic回归分析显示SNPs(rs890293、rs751141和rs1126452)与2型糖尿病没有显著相关性。【实验结论】中国汉族人群中CYP2J2和EPHX2基因多态性与2型糖尿病没有相关性。【关键词】CYP2J2EPHX2基因多态性胰岛素抵抗2型糖尿病1---华中科技大学硕士学位论文Geneticanalysisofthecytoch

3、romeP450(CYP)2J2andsolubleepoxidehydrolasegenesinChinesesubjectswithtype2diabetesAbstractBackgroundandPurpose—TheassociationbetweencommonvariantsofCYP2J2geneandEPHX2genewiththedevelopmentofcardiovasculardiseases(CVD)havebeenpredominantlyidentifiedinpreviousstudies.However,thisstudywit

4、hinpersonswithtype2diabetesmellitus(T2DM)evaluatedwhethersingle-nucleotidepolymorphisms(SNPs)inthesamegenescoulddistinguishT2DMrisk.Methods—Genepromoterregion,allexonsand3`-untranslatedregionoftheCYP2J2andEPHX2genesweredirectlysequencedin48individuals.GenotypingsfortheSNPswhichwereel

5、igibleforinclusioninthestudywereperformedusingTaqManSNPGenotypingAssaysin1135patientswithT2DMand1139controlsubjects.Results—NewofthemostrelevantpolymorphismsintermsoffrequencyandfunctionalimportancewiththeCYP2J2andEPHX2werenotfound.Genotypingdataindicatethatnosignificantdifferencewereo

6、bservedingenotypedistribution(χ2test;genotype:p=0.717;p=0.304;p=0.322,respectively)andallelefrequency(p=0.732;p=0.338;p=0.427,respectively)betweenChinesenon-diabeticsubjects(n=1139)andtype2diabeticpatients(n=1135).Multivariatelogisticanalysisdataindicatethatnosignificantassociationsw

7、erefoundbetweenrs890293,rs751141orrs1126452polymorphismvariantalleleandthedevelopmentofT2DMunderadominantmodelarecessivemodelandanadditivemodelafterornotadjustmentforconventionalriskfactors.Similarly,noneofthepolymorphismswasfoundtoassociatewithinsulinresistanceunderdifferentgeneticm

8、odelsbetween