南方医科大学学报

南方医科大学学报 ›› 2013, Vol. 33 ›› Issue (12): 1733-.

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内皮型一氧化氮合酶基因G-894T、T-786C多态性与散发性颅内动脉瘤的相关性

刘丽，黄旭升，蔡艺灵，杜娟，冯凯，路浩军   

  • 出版日期:2013-12-20 发布日期:2013-12-20

Association of G-894T and T-786C polymorphisms of endothelial nitric oxide synthase
gene with sporadic intracranial aneurysms

  • Online:2013-12-20 Published:2013-12-20

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摘要： 目的探讨内皮型一氧化氮合酶基因（eNOS）G-894T、T-786C多态性与散发性颅内动脉瘤的相关性。方法在散发性颅内
动脉瘤病例组及对照组中，应用聚合酶链反应、限制性片段长度多态性（RFLP）的方法对eNOS基因2个多态位点进行研究，研
究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eNOS基因G-894T位点基因型在病例组
及对照组中的分布差异有显著意义。G-894T位点GG基因型较（GT+TT）基因型发生颅内动脉瘤的风险提高（OR：1.89，95%
CI：1.02-3.52，P=0.04）。T-786C 多态位点C 等位基因较T 等位基因发生颅内动脉瘤的风险增加（OR：2.116，95% CI：
1.073-4.151，P=0.03）。eNOS两个位点的基因型及等位基因频率分布与颅内动脉瘤的大小无明显相关。结论eNOS可能参与
颅内动脉瘤的发生及发展过程。

Abstract: Objective To investigate the relationship between 2 polymorphic loci (G-894T and T-786C) of endothelial nitric oxide
synthase (eNOS) gene and sporadic intracranial aneurysms. Methods Two eNOS gene polymorphisms at G-894T and T-786C
were genotyped using polymerase chain reaction-restriction fragment length polymorphism analysis. The genotype and allele
frequencies were calculated for the patients and the control group and the association between the gene polymorphisms and
the size of aneurysms was analyzed. Results Significant differences were found in the genotype distribution for eNOS G-894T
polymorphism between the patient and control groups. The GG genotype was associated with a higher risk of intracranial
aneurysm than GT + TT genotype (OR:1.897, 95% CI: 1.023-3.519, P=0.04). The patients with intracranial aneurysms had a
significantly higher eNOS T-786C C allele frequency than the control group. The C allele was associated with a higher risk of
intracranial aneurysm than T allele (OR: 2.116, 95%CI: 1.073-4.151, P=0.030). No significant association was found between the
eNOS polymorphisms and the size of aneurysms. Conclusion eNOS gene may be involved in the occurrence and development
of intracranial aneurysms.