兰尼碱受体1基因多态性与动脉瘤性蛛网膜下腔出血及其临床后遗症无关。
Ryanodine Receptor 1 Polymorphism Is Not Associated with Aneurysmal Subarachnoid Hemorrhage or its Clinical Sequelae.
作者信息
Hendrix Philipp, Foreman Paul M, Harrigan Mark R, Fisher Winfield S, Vyas Nilesh A, Lipsky Robert H, Lin Minkuan, Walters Beverly C, Tubbs R Shane, Shoja Mohammadali M, Pittet Jean-Francois, Mathru Mali, Griessenauer Christoph J
机构信息
Department of Neurosurgery, Saarland University Medical Center and Saarland University Faculty of Medicine, Homburg/Saar, Germany.
Department of Neurosurgery, University of Alabama at Birmingham, Alabama, USA.
出版信息
World Neurosurg. 2017 Apr;100:190-194. doi: 10.1016/j.wneu.2016.12.132. Epub 2017 Jan 10.
OBJECTIVE
The pathophysiologic mechanisms underlying cerebral vasospasm after aneurysmal subarachnoid hemorrhage (aSAH) remain poorly understand. Ryanodine receptors (RYR) are intracellular calcium channels involved in the regulation of vascular smooth muscle cells and cerebrovascular tone and diameter. Previous work reported an association between an RYR polymorphism and cerebral vasospasm. Here, we sought to assess the impact of that RYR polymorphism on aSAH and its clinical sequelae.
METHODS
Blood samples from all patients enrolled in the CARAS (Cerebral Aneurysm Renin Angiotensin System) study were used for genetic evaluation. The RYR1 single nucleotide polymorphism (SNP) rs35364374 was detected using 5'exonuclease (Taqman) genotyping assays. Associations between the RYR1 polymorphism and aSAH and its clinical sequelae were analyzed.
RESULTS
Samples from 149 patients with aSAH and 50 controls were available for analysis. Multivariable regression analysis did not show an association of RYR1 SNP rs35364374 with aSAH. Moreover, there was no association of RYR1 SNP rs35364374 with clinical vasospasm, delayed cerebral ischemia, functional outcome at discharge, or functional outcome at last follow-up.
CONCLUSIONS
Contrary to a previous report, the RYR1 SNP rs35364374 was not associated with aSAH or its clinical sequelae.
目的
动脉瘤性蛛网膜下腔出血（aSAH）后脑血管痉挛的病理生理机制仍未完全明确。兰尼碱受体（RYR）是细胞内钙通道，参与血管平滑肌细胞及脑血管张力和直径的调节。既往研究报道RYR基因多态性与脑血管痉挛有关。在此，我们旨在评估该RYR基因多态性对aSAH及其临床后遗症的影响。
方法
纳入CARAS（脑动脉瘤肾素血管紧张素系统）研究的所有患者的血样用于基因评估。采用5'核酸外切酶（Taqman）基因分型检测法检测RYR1单核苷酸多态性（SNP）rs35364374。分析RYR1基因多态性与aSAH及其临床后遗症之间的关联。
结果
共149例aSAH患者和50例对照者的样本可供分析。多变量回归分析未显示RYR1 SNP rs35364374与aSAH有关。此外，RYR1 SNP rs35364374与临床血管痉挛、迟发性脑缺血、出院时功能结局或末次随访时功能结局均无关联。
结论
与既往报道相反，RYR1 SNP rs35364374与aSAH及其临床后遗症无关。
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