Extended Single Nucleotide Polymorphism and Haplotype Analysis of the <i>elastin</i> Gene in Caucasians with Intracranial Aneurysms Provides Evidence for Racially/Ethnically Based Differences

Vol. 18, No. 2, 2004

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Original Paper

Extended Single Nucleotide Polymorphism and Haplotype Analysis of the elastin Gene in Caucasians with Intracranial Aneurysms Provides Evidence for Racially/Ethnically Based Differences
Dietmar Krex^a, Inke R. König^c, Andreas Ziegler^c, Hans K. Schackert^b, Gabriele Schackert^a

Departments of
^aNeurosurgery and
^bSurgical Research, University Hospital Carl Gustav Carus, University of Technology, Dresden, and
^cInstitute of Medical Biometry and Statistics, University at Lübeck, Lübeck, Germany

Address of Corresponding Author

Cerebrovasc Dis 2004;18:104-110 (DOI: 10.1159/000079257)

Key Words

Intracranial aneurysm
Polymorphism
Genetics
Elastin
Ethnology

Abstract

Background: There is growing evidence that genetic variants have an impact on the pathogenesis of intracranial aneurysm (IA). Recently, the genetic locus around the elastin gene (7q11) has been identified as linked to IA in a Japanese population. Our aim was to confirm these results in Caucasian populations. Methods: We conducted a case-control study in 120 Caucasian patients with IA and 172 controls to investigate 8 single nucleotide polymorphisms (SNPs) and various haplotypes within the elastin gene, which were frequently found and associated with the phenotype in the Japanese populations. Real-time PCR and melting curve analysis were used for the detection of genotypes. Results: Allele frequencies and genotypes were equally distributed between Caucasian cases and controls. We failed to identify haplotypes that are associated with the phenotype in our population, which is in contrast to the Japanese study. However, allele frequencies in control populations differ between Caucasians and Japanese. Conclusions: We found no association between SNPs and haplotypes of the elastin gene and the occurrence of IA in our Caucasian populations. However, our data provide strong evidence for racial/ethnic differences in the association of SNP and specific haplotypes of the elastin gene with the phenotype. There might be other genetic variants of the elastin gene associated with IA in Caucasians.

Author Contacts

Dr. Dietmar Krex
Department of Neurosurgery, Carl Gustav Carus University Hospital
University of Technology, Fetscherstrasse 74
DE-01307 Dresden (Germany)
Tel. +49 351 458 2886, Fax +49 351 458 4304, E-Mail krex@rcs.urz.tu-dresden.de

Article Information

Received: August 13, 2003
Accepted: January 15, 2004
Published online: June 22, 2004
Number of Print Pages : 7
Number of Figures : 0, Number of Tables : 6, Number of References : 27

Medline Abstract (ID 15218274)

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