Ryanodine receptor 1 polymorphism is not associated with aneurysmal subarachnoid hemorrhage or its clinical sequelae.

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Ryanodine receptor 1 polymorphism is not associated with aneurysmal subarachnoid hemorrhage or its clinical sequelae.

World Neurosurg. 2017 Jan 10;:

Authors: Hendrix P, Foreman PM, Harrigan MR, Fisher WS, Vyas NA, Lipsky RH, Lin M, Walters BC, Tubbs RS, Shoja MM, Pittet JF, Mathru M, Griessenauer CJ

Abstract
OBJECTIVE: The pathophysiological mechanisms underlying cerebral vasospasm following 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 a 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 aSAH patients and 50 controls were available for analysis. Multivariable regression analysis did not reveal 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 ryanodine receptor 1 SNP rs35364374 was not associated with aSAH or its clinical sequelae.

PMID: 28087430 [PubMed - as supplied by publisher]

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