SNPrs11661542通过CtIP基因影响新疆地区哈萨克族颅内动脉瘤发生的机制研究

颅内动脉瘤系颅内动脉壁瘤样异常突起，是造成蛛网膜下腔出血(SAH)的首位病因，在脑血管意外中，仅次于脑血栓和高血压脑出血，位居第三。最近，在挖掘颅内动脉瘤发生易感基因型的研究中，在CtIP基因的上游发现了一个重要的SNP rs11661542，与颅内动脉瘤的发生存在显著关联。我们同样发现，该SNP与在新疆地区哈萨克族颅内动脉瘤的发生显著相关。但是，该位点是如何影响颅内动脉瘤易感性的，尚不得而知。因此，本研究立足新疆本地人群，拟通过相关性分析和分子生物学技术，从基因组水平和转录表达水平，明确SNP rs11661542与CtIP基因表达调控作用，并揭示其影响颅内动脉瘤发生的机制，探索颅内动脉瘤的发病机制，为我区颅内动脉瘤疾病的预防、早期诊断和治疗奠定理论基础。

Intracranial aneurysm is caused by abnormal protrusion of arterial wall, which is the first cause resulting in subarachnoid hemorrhage (SAH), being next only to cerebral thrombosis and hypertensive intracerebral hemorrhage in cerebrovascular accident. Recently, an important SNP rs11661542 was found in the upstream of the CtIP gene in the study of susceptibility genes of intracranial aneurysm, which was significantly associated with the occurrence of intracranial aneurysms. In previous study, we also found that the SNP occurred in Kazak of Xinjiang area were significantly related with intracranial aneurysm. However, it is not known how this locus affects susceptibility to intracranial aneurysms. Therefore, this study basing on Xinjiang local race, using correlation analysis and molecular biology techniques, from the genomic level and the transcriptional expression, intends to clear the regulation relationship between SNP rs11661542 and CtIP gene, and reveal the mechanism of SNP rs11661542 function on the occurrence of intracranial aneurysms, which will explore the pathogenesis of intracranial aneurysms and lay the theoretical foundation for prevention, early diagnosis and treatment of intracranial aneurysm disease.