南方医科大学学报

南方医科大学学报 ›› 2014, Vol. 34 ›› Issue (01): 60-.

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内皮素受体A基因多态性与散发性颅内动脉瘤的相关性

刘 丽，黄旭升，蔡艺灵，冯 凯，杜 娟，路浩军，程飞飞   

  • 出版日期:2014-01-20 发布日期:2014-01-20

Correlation between endothelin receptor type A gene polymorphism and sporadic
intracranial aneurysms

  • Online:2014-01-20 Published:2014-01-20

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摘要： 目的探讨内皮素受体A基因（EDNRA）多态性与散发性颅内动脉瘤的相关性。方法在散发性颅内动脉瘤及对照组中，应
用聚合酶链反应、限制性片段长度多态性（RFLP）的方法对EDNRA基因3个多态位点进行研究，分析上述多态位点基因型及等
位基因频率在两组中的分布，并分析其与颅内动脉瘤大小的关系。结果EDNRA基因的rs5335、rs6842241、rs6841581位点基
因型及等位基因频率在病例组及对照组中的分布无明显差异。Rs6841581 GG基因型频率分布与颅内动脉瘤大小有关，
EDNRA的其它多态位点的基因型及等位基因频率与动脉瘤的大小无明显相关。结论EDNRA基因rs6841581位点与颅内动
脉瘤的大小相关，提示EDNRA基因可能参与了颅内动脉瘤的发生发展过程。

Abstract: Objective To investigate the relationship between the 3 polymorphic loci of endothelin receptor type A (EDNRA)
gene and intracranial aneurysms. Methods Three EDNRA gene polymorphisms (rs5335, rs6842241, and rs6841581) were
genotyped using polymerase chain reaction-restriction fragment length polymorphism analysis. The genotype and allele
frequencies were calculated in the patients and the control group to analyze the association between the gene and the size of
aneurysms. Results No significant difference was found in the distribution of the EDNRA gene genotypes or allele frequencies
between the patients and the control subjects. Only GG genotype of rs6841581 was found to significantly correlate with the size
of aneurysms. Conclusion EDNRA gene rs6841581 has significant associations with the size of intracranial aneurysms,
indicating a possible role of EDNRA in the genetic mechanisms of intracranial aneurysms and subarachnoid hemorrhage.