Yu Ting, Jiang Hailong, Fan Yunren, Xu Yunfeng, Wang Ning
Department of Neurosurgery, Tiantai People's Hospital, Taizhou.
Department of Neurosurgery, Zhuji People's Hospital, Zhuji City, Zhejiang Province, PR China.
Medicine (Baltimore). 2020 Dec 4;99(49):e23209. doi: 10.1097/MD.0000000000023209.
Intracranial aneurysm (IA) is one of the main causes of subarachnoid hemorrhage (SAH) leading to a high percentage of disability and mortality worldwide. In addition to environmental factors, the risk of rupture or prognosis of intracranial aneurysm is also closely related to gene. Thus, a lot of genetic studies have been used to explore associated risk genes as well as variant loci of intracranial aneurysm and found several chromosome variates including 9p21.3 (CDKN2BAS) related to Intracranial aneurysm. However, due to differences in population and the existence of SNP, it is still not determined that whether these genetic changes can be identified as independent risk factors for intracranial aneurysm. Therefore, we performed a meta-analysis of CDKN2BAS SNPs to explore its association with intracranial aneurysms and the results show a significance relation between rs10757272, rs1333040, and rs6475606 with intracranial aneurysm. This will open a new perspective for future intracranial aneurysm gene research and therapy.
颅内动脉瘤（IA）是导致全球高致残率和死亡率的蛛网膜下腔出血（SAH）的主要原因之一。除环境因素外，颅内动脉瘤破裂风险或预后也与基因密切相关。因此，许多基因研究已用于探索颅内动脉瘤的相关风险基因以及变异位点，并发现了几个与颅内动脉瘤相关的染色体变异，包括9p21.3（CDKN2BAS）。然而，由于人群差异和单核苷酸多态性（SNP）的存在，仍未确定这些基因变化是否可被确定为颅内动脉瘤的独立危险因素。因此，我们对CDKN2BAS单核苷酸多态性进行了荟萃分析，以探讨其与颅内动脉瘤的关联，结果显示rs10757272、rs1333040和rs6475606与颅内动脉瘤之间存在显著关联。这将为未来颅内动脉瘤基因研究和治疗开辟新的视角。
