Associations of Collagen Type I alpha 2 Polymorphisms with the Presence of Intracranial Aneurysms in Patients from Germany

作者：Glaesker Sven; Schatlo Bawarjan; Klingler Jan Helge; Braun Veit; Spangenberg Peter; Kim In Se; van Velthoven Vera; Zentner Josef; Neumann Hartmut P H

来源：Journal of Stroke and Cerebrovascular Diseases, 2014, 23(2): 356-360.

DOI：10.1016/j.jstrokecerebrovasdis.2013.04.038

• Intracranial aneurysm
• subarachnoid hemorrhage
• collagen
• single
• nucleotide polymorphism

Objective: Subarachnoid hemorrhage from ruptured intracranial aneurysms is associated with a severe prognosis. Preventive treatment of unruptured intracranial aneurysms is possible and recommended. However, the identification of risk patients by genetic analyses is not possible because of lack of candidate genes. Collagen type I alpha 2 (COL1A2) has been associated with the presence of aneurysms in patients from Japan, China, and Korea. In this study, we investigate whether COL1A2 is a possible aneurysm candidate gene in the German population. Methods: Patients admitted with intracranial aneurysms to our department and collaborating departments were enrolled. Three single-nucleotide polymorphisms (SNPs) of the COL1A2 gene, namely rs42524 in exon 28, rs1800238 in exon 32, and rs2621215 in intron 46 were investigated using restriction enzymes and sequencing. HapMap data were used for comparison of allelic frequencies with the normal population by chi(2) test to identify significant associations between genotypes and the presence of aneurysms. Results: Two hundred sixty-nine patients were enrolled into the study. There was a significant correlation with the presence of aneurysms for the GC allele of the SNP rs42524 in exon 28 (P = .02). The other polymorphisms did not show significant correlations. Conclusions: The COL1A2 gene is associated with intracranial aneurysms in a subset of the German population. However, it is not responsible for the majority of aneurysms, and further candidate genes need to be identified to develop sensitive genetic screening for patients at risk.

• 出版日期2014-2