宁波地区汉族人群冠心病候选基因变异及其临床的关联性

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1、宁波地区汉族人群冠心病候选基因变异及其临床的关联性【摘要】目的:探讨CETPTaq1B，LPLHindⅢ及LPLPvuⅡ基因变异对宁波地区汉族人群血脂代谢及冠心病临床表型的影响.方法:入选宁波地区行冠状动脉造影（CAG）检查的汉族人群186例，男性75.1%,平均年龄(61±10)岁.其中冠心病组111例，对照组75例.采用苯酚氯仿异丙醇抽提外周血白细胞全基因组DNA，通过聚合酶链式反应（PCR）及限制性片段长度多态性（RFLP）结合测序方法确定候选基因ABCA1G596A单核苷酸多态性（SNPs）.结果:宁波地区汉族人群CETPTaq1B基因型B1B1，B1B2及B2

2、B2分布频率依次为0.39，0.49及0.11；LPLHindⅢ基因型H+H+，H+H-及H-H-频率分别为0.58，0.39及0.03；LPLPvuⅡ基因型P+P+，P+P-及P-P-频率分别为0.38，0.55及0.07.宁波地区CETPTaq1B变异升高HDL水平（P=0.01），同时对TG亦有降低趋势（P=0.06）；LPLHindⅢ及PvuⅡ对HDLC均无显著影响，而LPLHindⅢ及PvuⅡ基因变异均显著降低血浆TG水平（P=0.001，P=0.04）；3种SNP对血浆总胆固醇及LDL均无显著影响.冠心病与对照组之间上述3种变异基因型频率分布均无显著性差异（P

3、>0.05）.结论:冠心病候选基因CETPTaq1B，LPLHindⅢ及LPLPvuⅡ变异对血脂代谢产生一定的影响，但与冠心病临床表型之间缺乏显著性关联.【关键词】13冠状动脉疾病；多态性，单核苷酸；脂类；胆固醇酯转运蛋白；脂蛋白脂酶【Abstract】AIM:ToinvestigatetheeffectsofvarcationofCETPTaq1B,LPLHindⅢandLPLPvuⅡgenesonplasmalipidmetabolismandclinicalfeaturesofcoronaryarterydiseaseinNingboHanpopulation

4、.METHODS:Totally186patientsundertakingcoronaryangiographywererecruitedfromNingbodistrict,including111patientswithcoronaryarterydisease(CAD)and75controls.Malesubjectsaccountedfor75.1%andaged（61±10）years.TheDNAwasextractedfromperipheralwhitebloodcellsbyproteinaseKdigestion,phenolandchloroformextr

5、actionaswellasisopropanolprecipitation.Thesinglenucleotidepolymorphisms(SNPs)ofcholesterolestertransferprotein(CETP)Taq1B,LipoproteinLipase(LPL)HindⅢandLPLPvuⅡweregenotypedbyPCRRFLP,andverifiedbygenesequencing.RESULTS:GenotypefrequenciesofCETPTaq1B,LPLHindⅢandLPLPvuⅡvariantswere0.39，0.49

6、and0.11forB1B1,B1B2andB2B2,0.58,0.39and0.03forH+H+,H+H-andH-H-,0.38,0.55and0.07forP+P+,P+P-andP-P-,respectively.HDLClevelwassiginificantlyhigherinCETPB1B1carriersthaninB2B2carriers(P=0.01),whileTGlevelhadatrendofdecrease(P=0.06).SNPsofLPLHindⅢandLPLPvuⅡpredictedplasma13TGlevel(P=0.001andP=0

7、.04).ThreeSNPswerenotsignificantlyassociatedwiththeplasmatotalcholesterolandLDLClevels.However,CETPTaq1B,LPLHindⅢandLPLPvuⅡvariantswerenotpredictiveofthepresenceofcoronaryangiographicdefinedcoronaryarterydiseaseinNingbodistric