Associations of Collagen Type I α2 Polymorphisms with the Presence of Intracranial Aneurysms in Patients from Germany

• Published in: Journal of stroke and cerebrovascular diseases 2014-02, Vol.23 (2), p.356-360
• Main Authors: Gläsker, Sven, MD, Schatlo, Bawarjan, MD, Klingler, Jan-Helge, MD, Braun, Veit, MD, Spangenberg, Peter, MD, Kim, In-Se, MD, van Velthoven, Vera, MD, Zentner, Josef, MD, Neumann, Hartmut P.H., MD
• Format: Article
• Language: English
• Subjects: Cardiovascular; Chi-Square Distribution; collagen; Collagen Type I - genetics; Exons; Gene Frequency; Genetic Predisposition to Disease; Germany - epidemiology; Humans; Intracranial aneurysm; Intracranial Aneurysm - diagnosis; Intracranial Aneurysm - epidemiology; Intracranial Aneurysm - genetics; Introns; Neurology; Odds Ratio; Phenotype; Polymorphism, Single Nucleotide; Risk Assessment; Risk Factors; Sequence Analysis, DNA; single-nucleotide polymorphism; subarachnoid hemorrhage; Subarachnoid Hemorrhage - epidemiology; Subarachnoid Hemorrhage - genetics
• ISSN: 1052-3057; 1532-8511
• DOI: 10.1016/j.jstrokecerebrovasdis.2013.04.038

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 α2 ( 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 χ2 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.