NEW YORK (Reuters Health) - A single nucleotide polymorphism (SNP) in the collagen type I alpha-2 (COLIA2) gene is associated with intracranial aneurysms, particularly in patients with a family history of the abnormality, Japanese physicians report.
Previous research has suggested that the COLIA2 gene is overexpressed in intracranial aneurysms, Dr. Ituro Inoue, at the University of Tokyo, and his associates note in their paper, published in the February issue of Stroke.
They therefore genotyped 21 SNPs of COLIA2 in 260 patients with intracranial aneurysms and 293 age-matched control subjects. In the patient group, there were 115 with a family history and 145 sporadic cases.
Three SNPs showed significant differences between control and cases and between controls and familial cases. The most significant association was for SNP28; the odds ratio for familial aneurysms was 3.19 relative to controls (p = 0.00087). For total cases and controls, the ratio was 3.00 (p = 0.001).
Their research showed that the protein product of the SNP28 had a higher thermal stability than did the wild-type COLIA2.
They speculate that this COLIA2 variant “may affect the rigidity or elasticity of the vascular wall,” and that it “could affect interaction with other molecules, eventually altering the vascular wall strength.”
However, they also point out that the allelic frequency of this variant is low, so it probably accounts for only a portion of the susceptibility to intracranial aneurysms.
Source: Stroke 2004;34:443-448. [ Google search on this article ]
MeSH Headings:Intracranial Aneurysm: Cerebral Arterial Diseases: Polymorphism, Single Nucleotide: Intracranial Arterial DiseasesCopyright © 2002 Reuters Limited. All rights reserved. Republication or redistribution of Reuters content, including by framing or similar means, is expressly prohibited without the prior written consent of Reuters. Reuters shall not be liable for any errors or delays in the content, or for any actions taken in reliance thereon. Reuters and the Reuters sphere logo are registered trademarks and trademarks of the Reuters group of companies around the world.