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首页> 外文期刊>Journal of stroke and cerebrovascular diseases: The official journal of National Stroke Association >Associations of collagen type i α2 polymorphisms with the presence of intracranial aneurysms in patients from Germany
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Associations of collagen type i α2 polymorphisms with the presence of intracranial aneurysms in patients from Germany

机译：德国患者i型胶原α2多态性与颅内动脉瘤的相关性

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Objective: Subarachnoid hemorrhage from ruptured intracranial aneurysms is associated with a severe prognosis. Preventive treatment of unruptured intracranial aneurysms is possible and recommended. However, the identification of risk patients by genetic analyses is not possible because of lack of candidate genes. Collagen type I α2 (COL1A2) has been associated with the presence of aneurysms in patients from Japan, China, and Korea. In this study, we investigate whether COL1A2 is a possible aneurysm candidate gene in the German population. Methods: Patients admitted with intracranial aneurysms to our department and collaborating departments were enrolled. Three single-nucleotide polymorphisms (SNPs) of the COL1A2 gene, namely rs42524 in exon 28, rs1800238 in exon 32, and rs2621215 in intron 46 were investigated using restriction enzymes and sequencing. HapMap data were used for comparison of allelic frequencies with the normal population by χ2 test to identify significant associations between genotypes and the presence of aneurysms. Results: Two hundred sixty-nine patients were enrolled into the study. There was a significant correlation with the presence of aneurysms for the GC allele of the SNP rs42524 in exon 28 (P =.02). The other polymorphisms did not show significant correlations. Conclusions: The COL1A2 gene is associated with intracranial aneurysms in a subset of the German population. However, it is not responsible for the majority of aneurysms, and further candidate genes need to be identified to develop sensitive genetic screening for patients at risk.
机译：目的：颅内动脉瘤破裂引起的蛛网膜下腔出血与严重的预后相关。并建议对未破裂的颅内动脉瘤进行预防性治疗。但是，由于缺乏候选基因，因此无法通过遗传分析识别高危患者。 I型胶原蛋白α2（COL1A2）与日本，中国和韩国的患者存在动脉瘤有关。在这项研究中，我们调查了COL1A2是否是德国人群中可能的动脉瘤候选基因。方法：选择我科及合作科收治的颅内动脉瘤患者。使用限制酶和测序研究了COL1A2基因的三个单核苷酸多态性（SNP），即外显子28中的rs42524，外显子32中的rs1800238和内含子46中的rs2621215。 HapMap数据通过χ2检验用于将等位基因频率与正常人群进行比较，以鉴定基因型与动脉瘤存在之间的显着相关性。结果：269例患者被纳入研究。外显子28中SNP rs42524的GC等位基因与动脉瘤的存在存在显着相关性（P = .02）。其他多态性没有显示出明显的相关性。结论：COL1A2基因与部分德国人群的颅内动脉瘤有关。但是，它不负责大多数动脉瘤，还需要确定其他候选基因，以开发针对有风险患者的敏感基因筛查。

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