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RNF213基因多态性与广西壮族成人烟雾病遗传易感性研究 被引量：2

Association between RNF213 gene polymorphisms and the genetic susceptibility of adult Moyamoya disease of Zhuang population in Guangxi
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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-MMD ICASO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-MMD ICASO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%CI 1.47~103.10,P=0.006,OR=8.17,95%CI 0.96~69.74,P=0.045）;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-MMD ICASO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。 Objective To investigate the association between rs138130613,rs112735431 and rs148731719 polymorphisms of ring finger protein 213（ RNF213） gene and the genetic susceptibility of adult Moyamoya disease（ MMD） in Guangxi Zhuang population. Methods 52 consecutive adult patients with MMD and 64 non-MMD ICASO were recruited from the First Affiliated Hospital of Guangxi Medical University between October 2013 and May 2015. 80 gender-and agematched healthy individuals consisted of the control group. 3 groups in all of the subjects were asked and sure to be confirmed as Zhuang population in Guangxi. Polymorphisms of rs138130613,rs112735431 and rs148731719 in RNF213 gene were genotyped by PCR sequencing,and the frequencies of genotypes and alleles were compared and analyzed. Results The genotype（ GA ＋ AA） frequencies of rs112735431 in RNF213 in both moyamoya disease group and non-MMD ICASO group were significantly higher than the normal control group（ OR = 12. 29,95% CI 1. 47-103. 10,P = 0. 006; OR = 8. 17,95% CI 0. 96-69. 74,P = 0. 045 respectively）. The allele and genotype frequencies of rs138130613 and rs148731719 showed no statistically significant between moyamoya disease group and normal control group,non-MMD ICASO group and normal control group. Conclusion Polymorphisms of rs112735431 in RNF213 might be a genetic marker for MMD and might be related to the formation of intracranial major artery stenosis / occlusion which absence of MMD in Guangxi Zhuang population.
作者 黄燕兰 程道宾 张皆德 肖友生 罗曼
机构地区 广西医科大学第一附属医院神经内科 广西民族医院神经内科
出处 《中风与神经疾病杂志》 CAS 北大核心 2015年第10期918-921,共4页 Journal of Apoplexy and Nervous Diseases
基金 广西壮族自治区教育厅科研课题(No.YB2014069)
关键词 烟雾病 多态性 环指蛋白213 单核苷酸 Moyamoya disease Polymorphism Ring finger protein 213 Single nucleotide
分类号 R743.3 [医药卫生—神经病学与精神病学]
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参考文献17

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二级参考文献18

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中风与神经疾病杂志
2015年 第10期

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