RNF213基因多态性与广西壮族成人烟雾病遗传易感性研究_黄燕兰

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1、·918·JApoplexyandNervousDiseases，October2015，Vol32，No．10文章编号:1003-2754(2015)10-0918-04ＲNF213基因多态性与广西壮族成人烟雾病遗传易感性研究11211黄燕兰，程道宾，张皆德，肖友生，罗曼摘要:目的探讨环指蛋白213(ＲNF213)基因rs138130613、rs112735431和rs148731719位点多态性与广西壮族成人型烟雾病遗传易感性的关系。方法收集来自广西医科大学第一附属医院2013年10月－2015年5月符合烟雾病诊断的病例52例，non-MMDI

2、CASO患者64例，选择同期年龄和性别与之相匹配的80例健康体检者作为对照组，3组中所有研究对象经询问确定为广西壮族人群。通过PCＲ测序方法分析ＲNF213基因rs138130613、rs112735431及rs148731719位点多态性，对各位点的基因型、等位基因频率进行比较分析。结果ＲNF213基因rs112735431位点在烟雾病组和non-MMDICASO组中基因型(GA+AA)频率均显著高于正常对照组(分别为OＲ=12．29，95%CI1．47～103．10，P=0．006，OＲ=8．17，95%CI0．96～69．74，P=0．045

3、);rs138130613和rs148731719位点的等位基因和基因型频率在烟雾病和正常对照组、non-MMDICASO组和正常对照组间差异均无统计学意义。结论ＲNF213基因rs112735431位点多态性可能是广西壮族成人烟雾病的易患因子，还可能与广西壮族成人颅内主干动脉狭窄的形成有关。关键词:烟雾病;多态性;环指蛋白213;单核苷酸中图分类号:Ｒ743．3文献标识码:AAssociationbetweenＲNF213genepolymorphismsandthegeneticsusceptibilityofadultMoyamoyadise

4、aseofZhuangpopulationinGuangxiHUANGYanlan，CHENGDaobin，ZHANGJiede，etal．(DepartmentofNeurology，theFirstAffiliatedHospitalofGuangxiMedicalUniversity，Nanning530021，China)Abstract:ObjectiveToinvestigatetheassociationbetweenrs138130613，rs112735431andrs148731719polymor-phismsofringfi

5、ngerprotein213(ＲNF213)geneandthegeneticsusceptibilityofadultMoyamoyadisease(MMD)inGuangxiZhuangpopulation．Methods52consecutiveadultpatientswithMMDand64non-MMDICASOwererecruitedfromtheFirstAffiliatedHospitalofGuangxiMedicalUniversitybetweenOctober2013andMay2015．80gender-andage-

6、matchedhealthyindividualsconsistedofthecontrolgroup．3groupsinallofthesubjectswereaskedandsuretobecon-firmedasZhuangpopulationinGuangxi．Polymorphismsofrs138130613，rs112735431andrs148731719inＲNF213geneweregenotypedbyPCＲsequencing，andthefrequenciesofgenotypesandalleleswerecompare

7、dandanalyzed．ＲesultsThegenotype(GA+AA)frequenciesofrs112735431inＲNF213inbothmoyamoyadiseasegroupandnon-MMDICASOgroupweresignificantlyhigherthanthenormalcontrolgroup(OＲ=12．29，95%CI1．47-103．10，P=0．006;OＲ=8．17，95%CI0．96-69．74，P=0．045respectively)．Thealleleandgenotypefrequenciesof

8、rs138130613andrs148731719showednostatisticallysignificantbetw