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首页> 外文期刊>Stroke: A Journal of Cerebral Circulation >Association of polymorphisms and haplotypes in the elastin gene in dutch patients with sporadic aneurysmal subarachnoid hemorrhage.
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Association of polymorphisms and haplotypes in the elastin gene in dutch patients with sporadic aneurysmal subarachnoid hemorrhage.

机译：荷兰人伴发性动脉瘤性蛛网膜下腔出血的弹性蛋白基因多态性和单倍型的关联。

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BACKGROUND AND PURPOSE: A locus containing the elastin gene has been linked to familial intracranial aneurysms in 2 distinct populations. We investigated the association of single-nucleotide polymorphisms (SNPs) and haplotypes of SNPs in the elastin gene with the occurrence of subarachnoid hemorrhage (SAH) from sporadic aneurysms in the Netherlands. METHODS: We genotyped 167 SAH patients and 167 matching controls for 18 exonic and intronic SNPs in the elastin gene. A Bonferroni correction was applied for multiple comparisons with all novel associations, with a correction factor derived from the number of SNPs tested (P value after Bonferroni correction [P(corr)]). RESULTS: SAH was statistically significant associated with an SNP in exon 22 of the elastin gene (minor allele frequency was 0.000 in patients and 0.028 in controls; odds ratio [OR], 0.0; 95% CI, 0.0 to 0.7; P=0.004; P(corr)=0.05) and possibly with an SNP in intron 5 (minor allele frequency was 0.062 in patients and 0.128 in controls; OR, 0.5; 95% CI, 0.2 to 0.8; P=0.007; P(corr)=0.08). Haplotypes of intron 5/exon 22 (P(corr)=0.002), intron 4/exon 22 (P(corr)=0.02), and intron 4/intron 5/exon 22 (P=9.0x10(-9)) were also associated with aneurysmal SAH. CONCLUSIONS: Variants and haplotypes within the elastin gene are associated with the risk of sporadic SAH in Dutch patients. Gradual increase of statistical power with the inclusion of 2 or 3 SNPs in the studied haplotypes supports the validity of our conclusion that the elastin gene is a susceptibility locus for SAH.
机译：背景与目的：含有弹性蛋白基因的基因座已与2个不同人群的家族性颅内动脉瘤相关。我们调查了弹性蛋白基因中单核苷酸多态性（SNPs）和单核苷酸多态性的单倍型与荷兰散发性动脉瘤的蛛网膜下腔出血（SAH）的发生的关系。方法：我们对弹性蛋白基因中18个外显子和内含子SNP的167名SAH患者和167个匹配对照进行了基因分型。将Bonferroni校正用于与所有新型关联的多重比较，校正因子源自测试的SNP数量（Bonferroni校正后的P值[P（corr）]）。结果：SAH与弹性蛋白基因第22外显子的SNP具有统计学意义（患者的次要等位基因频率为0.000，对照组为0.028;比值比[OR]为0.0; 95％CI为0.0至0.7; P = 0.004; P = 0.004）。 P（corr）= 0.05）并可能在内含子5中带有SNP（患者的次等位基因频率为0.062，对照组为0.128; OR为0.5; 95％CI为0.2至0.8; P = 0.007; P（corr）= 0.08 ）。内含子5 /外显子22（P（corr）= 0.002），内含子4 /外显子22（P（corr）= 0.02）和内含子4 /内含子5 /外显子22（P = 9.0x10（-9））的单倍型也与动脉瘤性SAH相关。结论：弹性蛋白基因内的变异和单倍型与荷兰患者散发SAH的风险有关。在所研究的单倍型中包含2个或3个SNP的统计能力的逐步提高，支持了我们的结论：弹性蛋白基因是SAH的易感基因座。

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