gms | German Medical Science

63. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC)
Joint Meeting mit der Japanischen Gesellschaft für Neurochirurgie (JNS)

Deutsche Gesellschaft für Neurochirurgie (DGNC) e. V.

13. - 16. Juni 2012, Leipzig

Associations of collagen type 1 alpha 2 polymorphisms with formation of intracranial aneurysms in patients from Germany

Meeting Abstract

  • S. Gläsker - Department of Neurosurgery, Freiburg University Medical Center, Germany
  • B. Schatlo - Department of Neurosurgery, Hôpitaux Universitaires de Genève, Switzerland
  • J.H. Klingler - Department of Neurosurgery, Freiburg University Medical Center, Germany
  • V.V. Velthoven - Department of Neurosurgery, Freiburg University Medical Center, Germany
  • H.P.H. Neumann - Department of Internal Medicine, Freiburg University Medical Center, Germany

Deutsche Gesellschaft für Neurochirurgie. Japanische Gesellschaft für Neurochirurgie. 63. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), Joint Meeting mit der Japanischen Gesellschaft für Neurochirurgie (JNS). Leipzig, 13.-16.06.2012. Düsseldorf: German Medical Science GMS Publishing House; 2012. DocDO.01.09

DOI: 10.3205/12dgnc026, URN: urn:nbn:de:0183-12dgnc0265

Veröffentlicht: 4. Juni 2012

© 2012 Gläsker et al.
Dieser Artikel ist ein Open Access-Artikel und steht unter den Creative Commons Lizenzbedingungen (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.de). Er darf vervielfältigt, verbreitet und öffentlich zugänglich gemacht werden, vorausgesetzt dass Autor und Quelle genannt werden.


Gliederung

Text

Objective: Subarachnoid hemorrhage (SAH) 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 due to lack of candidate genes. Collagen type I α2 (COL1A2) has been associated with aneurysm formation 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 collarorating departments were enrolled. Three single nucleotide polymorphisms (SNP) 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 was used for comparison of allelic frequencies with the normal population by χ2-test to identify significant associations between genotypes and aneurysm formation.

Results: 269 patients were enrolled into the study. There was a significant correlation with aneurysm formation for the GC allele of the SNP rs42524 in exon 28. The other polymorphisms did not show significant correlations.

Conclusions: The COL1A2 gene is involved in formation of 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 in order to develop sensitive genetic screening for patients at risk.