Extended single nucleotide polymorphism and haplotype analysis of the elastin gene in Caucasians with intracranial aneurysms provides evidence for racially/ethnically based differences
Extended single nucleotide polymorphism and haplotype analysis of the elastin gene in Caucasians with intracranial aneurysms provides evidence for racially/ethnically based differences
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DOI：
10.1159/000079257
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发表时间：
2004-01-01
影响因子：
2.9
通讯作者：
Schackert, G
中科院分区：
文献类型：
--
作者：
Krex, D;König, IR;Schackert, G
背景：越来越多的证据表明，遗传变异对颅内动脉瘤（IA）的发病机制有影响。最近，在日本人群中，弹性蛋白基因（7 q11）周围的遗传位点已被确定为与IA相关。我们的目标是在高加索人群中证实这些结果。研究方法：我们在120例白人IA患者和172例对照中进行了一项病例对照研究，以研究弹性蛋白基因内的8个单核苷酸多态性（SNP）和各种单倍型，这些单核苷酸多态性和单倍型在日本人群中经常被发现并与表型相关。采用实时荧光定量PCR和熔解曲线分析方法检测基因型。结果：白种人病例组和对照组的等位基因频率和基因型分布均匀。我们未能确定与我们人群中的表型相关的单倍型，这与日本的研究相反。然而，在对照人群中，高加索人和日本人的等位基因频率不同。结论：我们没有发现弹性蛋白基因的单核苷酸多态性和单倍型与我们的高加索人群中IA的发生之间存在关联。然而，我们的数据提供了强有力的证据，种族/民族差异的SNP和特定的单倍型的弹性蛋白基因与表型的关联。在白种人中，可能存在与IA相关的弹性蛋白基因的其他遗传变异。版权所有（C）2004 S. Karger AG，巴塞尔。
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. Copyright (C) 2004 S. Karger AG, Basel.