naa a22 4500 510775993 CHVBK 20180411083230.0 cr unu---uuuuu 180411e20130601xx s 000 0 eng 10.1007/s12975-012-0231-4 doi (NATIONALLICENCE)springer-10.1007/s12975-012-0231-4 Polymorphisms in ACVRL1 and Endoglin Genes are Not Associated with Sporadic and HHT-Related Brain AVMs in Dutch Patients [Elektronische Daten] [Kim Boshuisen, Manon Brundel, Carolien de Kovel, Tom Letteboer, Gabriel Rinkel, Cornelis Westermann, Helen Kim, Ludmila Pawlikowska, Bobby Koeleman, Catharina Klijn] 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. Springer Science+Business Media New York, 2012 Arteriovenous malformations nationallicence Aetiology nationallicence Genetics nationallicence Neurogenetics nationallicence Cerebrovascular disease nationallicence Boshuisen Kim Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neurosciences, University Medical Center Utrecht, Heidelberglaan 100, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut Brundel Manon Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neurosciences, University Medical Center Utrecht, Heidelberglaan 100, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut de Kovel Carolien Department of Biomedical Genetics and Complex Genetics, University Medical Center Utrecht, Heidelberglaan 100, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut Letteboer Tom Department of Biomedical Genetics and Complex Genetics, University Medical Center Utrecht, Heidelberglaan 100, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut Rinkel Gabriel Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neurosciences, University Medical Center Utrecht, Heidelberglaan 100, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut Westermann Cornelis Department of Pulmonology, St. Antonius Hospital, Koekoekslaan 1, 3435 CM, Nieuwegein, The Netherlands aut Kim Helen Departments of Anesthesia, Epidemiology and Biostatistics, University of California-San Francisco, 500 Parnassus Avenue, 94143-0244, San Francisco, CA, USA aut Pawlikowska Ludmila Departments of Anesthesia, Epidemiology and Biostatistics, University of California-San Francisco, 500 Parnassus Avenue, 94143-0244, San Francisco, CA, USA aut Koeleman Bobby Department of Biomedical Genetics and Complex Genetics, University Medical Center Utrecht, Heidelberglaan 100, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut Klijn Catharina Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neurosciences, University Medical Center Utrecht, Heidelberglaan 100, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut Translational Stroke Research Springer-Verlag 4/3(2013-06-01), 375-378 1868-4483 4:3<375 2013 4 12975 https://doi.org/10.1007/s12975-012-0231-4 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s12975-012-0231-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Boshuisen Kim Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neurosciences, University Medical Center Utrecht, Heidelberglaan 100, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut NATIONALLICENCE 700 1- Brundel Manon Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neurosciences, University Medical Center Utrecht, Heidelberglaan 100, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut NATIONALLICENCE 700 1- de Kovel Carolien Department of Biomedical Genetics and Complex Genetics, University Medical Center Utrecht, Heidelberglaan 100, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut NATIONALLICENCE 700 1- Letteboer Tom Department of Biomedical Genetics and Complex Genetics, University Medical Center Utrecht, Heidelberglaan 100, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut NATIONALLICENCE 700 1- Rinkel Gabriel Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neurosciences, University Medical Center Utrecht, Heidelberglaan 100, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut NATIONALLICENCE 700 1- Westermann Cornelis Department of Pulmonology, St. Antonius Hospital, Koekoekslaan 1, 3435 CM, Nieuwegein, The Netherlands aut NATIONALLICENCE 700 1- Kim Helen Departments of Anesthesia, Epidemiology and Biostatistics, University of California-San Francisco, 500 Parnassus Avenue, 94143-0244, San Francisco, CA, USA aut NATIONALLICENCE 700 1- Pawlikowska Ludmila Departments of Anesthesia, Epidemiology and Biostatistics, University of California-San Francisco, 500 Parnassus Avenue, 94143-0244, San Francisco, CA, USA aut NATIONALLICENCE 700 1- Koeleman Bobby Department of Biomedical Genetics and Complex Genetics, University Medical Center Utrecht, Heidelberglaan 100, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut NATIONALLICENCE 700 1- Klijn Catharina Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neurosciences, University Medical Center Utrecht, Heidelberglaan 100, PO Box 85500, 3508 GA, Utrecht, The Netherlands aut NATIONALLICENCE 773 0- Translational Stroke Research Springer-Verlag 4/3(2013-06-01), 375-378 1868-4483 4:3<375 2013 4 12975 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer