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1、重庆地区汉族人群TRB3基因+251A/G多态性与多囊卵巢综合征的相关性研究田波，李启富，龚莉琳，宋颖，钟立，杨淑敏，赵长虹，黄佳祎，程庆丰，梅枚，夏伟，罗梅（400016重庆，重庆医科大学附属第一医院内分泌科）[摘要]目的了解中国重庆地区汉族人群TRB3基因外显子+251A/G的基因型分布，探讨该基因多态性与多囊卵巢综合征（PCOS）及其糖脂代谢、胰岛素抵抗等的相关性。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对139例PCOS患者和120例正常对照者TRB3基因第2外显子+251A/G位点进行基因分型，同
2、时进行人体测量学及代谢指标的检测，并对其中的107例PCOS患者和20例正常对照行高胰岛素-正葡萄糖钳夹实验。结果TRB3基因+251A/G多态性位点的3种基因型AA、AG、GG频率在PCOS组中分别为62.59%、33.09%、4.32%，与对照组(60.83%、36.67%、2.5%)相比，差异无统计学意义(χ2=0.88，P=0.64)。PCOS组和对照组等位基因频率分布差异亦无统计学意义(P=0.99)。PCOS组AG/GG基因型的LDL-c和HDL-c水平明显低于AA基因型(P=0.028，P=0.036)。结论TRB3基
3、因+251A/G多态性与重庆地区汉族人群多囊卵巢综合征的发生无关，但可能与PCOS患者血脂代谢紊乱有关。[关键词]多态性，单核苷酸；TRB3基因；多囊卵巢综合征[中图法分类号][文献标志码]A[基金项目]国家自然科学基金（81070668）[通信作者]李启富，E-mail：liqifu@yeah.netAssociationCorrelationofTRB3gene+251A/Gpolymorphismwithpolycysticovariansyndrome:areportof139casesinChongqingHanpopul
4、ationTianBo,LiQifu,GongLilin,SongYing,ZhongLi,YangShumin,ZhaoChanghong,HuangJiayi,ChengQingfeng,MeimMei,XiawWei,LuomMei(DepartmentofEndocrinology,FirstAffiliatedHospital,ChongqingMedicalUniversity,Chongqing,400016,China)[Abstract]ObjectiveToinvestigatestudythegenotyped
5、istributionofTRB3exon+251A/GpolymorphisminHanpopulationfromChongqingarea,andtoexplorediscussitscorrelationassociationwithpolycysticovariansyndrome(PCOS),glycolipidsmetabolismandinsulinresistance.MethodsATtotalof139PCOSpatientsand120matchednormalcontrolsubjectsweregenot
6、ypedbyPCR-restrictionfragmentlengthpolymorphism(PCR-RFLP).Waistcircumference,hipcircumference,bodymassindex,plasmaglucose,seruminsulin,lipidprofilesandtotaltestosteroneweremeasured.Inasubgroupofthisstudy,thehyperglycemicclamptechniquewasperformedin107PCOSand20controlsu
7、bjectstoevaluateinsulinsensitivity.ResultsThefrequenciesofAA,AGandGGgenotypesinPCOSgroupwere62.59%,33.09%and4.32%respectively，,andincomparisonwiththoseofcontrolgroup(60.83%,36.67%and2.5%),therewasnosignificantdifference(χ2=0.88,P=0.64).Theallelefrequenciesalsoshowednos
8、ignificantdifferencebetweenthetwogroups(P=0.99).InPCOSgroup,theLDL-candHDL-coftheAG+GGgenotypewerelowerthanthoseofAAg
