Krex Dietmar, König Inke R, Ziegler Andreas, Schackert Hans K, Schackert Gabriele
Department of Neurosurgery, University Hospital Carl Gustav Carus, University of Technology, Dresden, Germany.
Cerebrovasc Dis. 2004;18(2):104-10. doi: 10.1159/000079257. Epub 2004 Jun 22.
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.
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.
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.
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.
越来越多的证据表明基因变异对颅内动脉瘤（IA）的发病机制有影响。最近，弹性蛋白基因（7q11）周围的基因位点已被确定与日本人群的IA相关。我们的目的是在白种人群中证实这些结果。
我们对120例白种IA患者和172例对照进行了病例对照研究，以调查弹性蛋白基因内8个单核苷酸多态性（SNP）和各种单倍型，这些在日本人群中经常被发现并与表型相关。采用实时PCR和熔解曲线分析检测基因型。
白种病例和对照之间的等位基因频率和基因型分布相同。我们未能在我们的人群中鉴定出与表型相关的单倍型，这与日本的研究结果相反。然而，白种人和日本人对照人群中的等位基因频率不同。
我们发现弹性蛋白基因的SNP和单倍型与我们白种人群中IA的发生之间没有关联。然而，我们的数据为弹性蛋白基因的SNP和特定单倍型与表型关联中的种族/民族差异提供了有力证据。白种人中可能存在与IA相关的弹性蛋白基因的其他遗传变异。
