在中欧，弹性蛋白多态性单倍型与颅内动脉瘤不相关。
Elastin polymorphism haplotype and intracranial aneurysms are not associated in Central Europe.
作者信息
Hofer Anne, Hermans Marcella, Kubassek Nina, Sitzer Matthias, Funke Harald, Stögbauer Florian, Ivaskevicius Vytautas, Oldenburg Johannes, Burtscher Johannes, Knopp Ulrich, Schoch Beate, Wanke Isabel, Hübner Felix, Deinsberger Wolfgang, Meyer Bernhard, Boecher-Schwarz Hans, Poewe Werner, Raabe Andreas, Steinmetz Helmuth, Auburger Georg
机构信息
Department of Neurology, Johann Wolfgang Goethe-University Frankfurt am Main, Germany.
出版信息
Stroke. 2003 May;34(5):1207-11. doi: 10.1161/01.STR.0000069013.83336.1C. Epub 2003 Apr 10.
BACKGROUND AND PURPOSE
The occurrence of intracranial aneurysms and of aneurysmal subarachnoid hemorrhage are influenced by genetic factors. Recent genomic studies in Japan have defined 3 chromosomal loci and 1 haplotype of elastin polymorphisms as important risk factors, both for affected sib pairs and sporadic patients.
METHODS
We have genotyped 2 single nucleotide polymorphisms in the elastin gene and evaluated their allelic association with intracranial aneurysm in a Central European sample of 30 familial and 175 sporadic patients and 235 population controls.
RESULTS
We found no allelic association between this elastin polymorphism haplotype and intracranial aneurysm.
CONCLUSIONS
Our data probably reflect increased genetic heterogeneity of intracranial aneurysm in Europe compared with Japan.
背景与目的
颅内动脉瘤的发生以及动脉瘤性蛛网膜下腔出血受遗传因素影响。日本近期的基因组研究已确定3个染色体位点以及1种弹性蛋白多态性单倍型是患病同胞对和散发性患者的重要危险因素。
方法
我们对弹性蛋白基因中的2个单核苷酸多态性进行了基因分型，并在一个由30例家族性患者、175例散发性患者和235名人群对照组成的中欧样本中评估了它们与颅内动脉瘤的等位基因关联。
结果
我们发现这种弹性蛋白多态性单倍型与颅内动脉瘤之间不存在等位基因关联。
结论
我们的数据可能反映出与日本相比，欧洲颅内动脉瘤的遗传异质性增加。
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