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首页> 外文期刊>Translational Stroke Research >Polymorphisms in ACVRL1 and Endoglin Genes are Not Associated with Sporadic and HHT-Related Brain AVMs in Dutch Patients
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Polymorphisms in ACVRL1 and Endoglin Genes are Not Associated with Sporadic and HHT-Related Brain AVMs in Dutch Patients

机译：在荷兰患者中，ACVRL1和Endoglin基因的多态性与散发和与HHT相关的脑AVM没有关联

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摘要

We aimed to replicate the association of the IVS3-35A>G polymorphism in the activin receptor-like kinase (ACVRL) 1 gene and the 207G>A polymorphism in the endoglin (ENG) gene with sporadic brain arteriovenous malformations (BAVM) in Dutch BAVM patients. In addition, we assessed whether these polymorphisms contribute to the risk of BAVM in patients with hereditary haemorrhagic telangiectasia type 1 (HHT1). We genotyped 143 Dutch sporadic BAVM patients and 360 healthy volunteers for four variants in the ACVRL1 gene including IVS3-35A>G and two variants in the ENG gene including 207G>A. Differences in allele and genotype frequencies between sporadic BAVM patients and controls and their combined effect were analysed with a likelihood ratio test. Furthermore, we compared the allele and genotype frequencies between 24 HHT1 patients with a BAVM with those of a relative with HHT1 without a BAVM in a matched pair analysis using Wilcoxon signed rank test. No significant differences in allele frequency were found between sporadic BAVM cases and controls or between HHT1 patients with and without BAVM for any of the polymorphisms or the combination of ACVRL1 and ENG polymorphisms. Meta-analysis of the current and the two previous studies for the ACVRL1 IVS3-35A polymorphism showed a persisting association between the ACVRL1 IVS3-35A polymorphism and risk of sporadic BAVM (odds ratio, 1.86; 95 % CI: 1.32–2.61, p < 0.001). We did not replicate the previously found association between a polymorphism in ACVRL1 IVS3-35A>G and BAVM in Dutch patients. However, meta-analysis did not rule out a possible effect.
机译：我们旨在复制激活素受体样激酶（ACVRL）1基因中的IVS3-35A> G多态性和内皮糖蛋白（ENG）基因中的207G> A多态性与荷兰BAVM中偶发性脑动静脉畸形（BAVM）的关联耐心。此外，我们评估了这些多态性是否有助于遗传性出血性毛细血管扩张1型（HHT1）患者的BAVM风险。我们对143名荷兰散发性BAVM患者和360名健康志愿者进行了基因分型，确定了ACVRL1基因的四个变体，包括IVS3-35A> G和ENG基因的两个变体，包括207G> A。用似然比检验分析散发性BAVM患者和对照之间等位基因和基因型频率的差异及其联合作用。此外，我们在使用Wilcoxon符号秩和检验的配对分析中，比较了24名患有BAVM的HHT1患者与没有BAVM的HHT1亲属的等位基因和基因型频率。在零星的BAVM病例和对照之间，或在有或没有BAVM的HHT1患者之间，对于任何多态性或ACVRL1和ENG多态性的组合，等位基因频率均无显着差异。对ACVRL1 IVS3-35A多态性的当前研究和之前的两项研究的荟萃分析显示，ACVRL1 IVS3-35A多态性与散发性BAVM的风险之间存在持久的联系（优势比，1.86; 95％CI：1.32–2.61，p 0.001）。我们没有在荷兰患者中复制先前发现的ACVRL1 IVS3-35A> G多态性与BAVM之间的关联。但是，荟萃分析并未排除可能的影响。

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  • 来源
    《Translational Stroke Research》 |2013年第3期|375-378|共4页
  • 作者

    Kim Boshuisen; Manon Brundel; Carolien G. F. de Kovel; Tom G. Letteboer; Gabriel J. E. Rinkel; Cornelis J. J. Westermann; Helen Kim; Ludmila Pawlikowska; Bobby P. C. Koeleman; Catharina J. M. Klijn;

  • 作者单位

    Department of Neurology and Neurosurgery Rudolf Magnus Institute of Neurosciences University Medical Center Utrecht">(1);

    Department of Neurology and Neurosurgery Rudolf Magnus Institute of Neurosciences University Medical Center Utrecht">(1);

    Department of Biomedical Genetics and Complex Genetics University Medical Center Utrecht">(2);

    Department of Biomedical Genetics and Complex Genetics University Medical Center Utrecht">(2);

    Department of Neurology and Neurosurgery Rudolf Magnus Institute of Neurosciences University Medical Center Utrecht">(1);

    Department of Pulmonology St. Antonius Hospital">(3);

    Departments of Anesthesia Epidemiology and Biostatistics University of California–San Francisco">(4);

    Departments of Anesthesia Epidemiology and Biostatistics University of California–San Francisco">(4);

    Department of Biomedical Genetics and Complex Genetics University Medical Center Utrecht">(2);

    Department of Neurology and Neurosurgery Rudolf Magnus Institute of Neurosciences University Medical Center Utrecht">(1);

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  • 正文语种 eng
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  • 关键词

    Arteriovenous malformations; Aetiology; Genetics; Neurogenetics; Cerebrovascular disease;

    机译：动静脉畸形;病因学遗传学神经遗传学;脑血管疾病;

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