Copy number variation in patients with cervical artery dissection
Cervical artery dissection (CeAD) occurs in healthy young individuals and often entails ischemic stroke. Skin biopsies from most CeAD-patients show minor connective tissue alterations. We search for rare genetic deletions and duplication that may predispose to CeAD. Forty-nine non-traumatic CeAD-pat...
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| Main Authors: | , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
23 May 2012
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| In: |
European journal of human genetics
Year: 2012, Volume: 20, Issue: 12, Pages: 1295-1299 |
| ISSN: | 1476-5438 |
| DOI: | 10.1038/ejhg.2012.82 |
| Online Access: | Verlag, Volltext: http://dx.doi.org/10.1038/ejhg.2012.82 Verlag, Volltext: https://www.nature.com/articles/ejhg201282 
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| Author Notes: | Caspar Grond-Ginsbach, Bowang Chen, Rastislav Pjontek, Tina Wiest, Yanxiang Jiang, Barbara Burwinkel, Sandrine Tchatchou, Michael Krawczak, Stefan Schreiber, Tobias Brandt, Manja Kloss, Marie-Luise Arnold, Kari Hemminki, Christoph Lichy, Philippe A. Lyrer, Ingrid Hausser, Stefan T. Engelter |
| Summary: | Cervical artery dissection (CeAD) occurs in healthy young individuals and often entails ischemic stroke. Skin biopsies from most CeAD-patients show minor connective tissue alterations. We search for rare genetic deletions and duplication that may predispose to CeAD. Forty-nine non-traumatic CeAD-patients with electron microscopic (EM) alterations of their dermal connective tissue (EM+ patients) and 21 patients with normal connective tissue in skin biopsies (EM− patients) were analyzed. Affymetrix 6.0 microarrays (Affymetrix) from all patients were screened for copy number variants (CNVs). CNVs absent from 403 control subjects and from 2402 published disease-free individuals were considered as CeAD-associated. The genetic content of undentified CNVs was analyzed by means of the Gene Ontology (GO) Term Mapper to detect associations with biological processes. In 49 EM+ patients we identified 13 CeAD-associated CNVs harboring 83 protein-coding genes. In 21 EM− patients we found five CeAD-associated CNVs containing only nine genes (comparison of CNV gene density between the groups: Mann-Whitney P=0.039). Patients’ CNVs were enriched for genes involved in extracellular matrix organization (COL5A2, COL3A1, SNTA1, P=0.035), collagen fibril organization COL5A2, COL3A1, (P=0.0001) and possibly for genes involved in transforming growth factor beta (TGF)-beta receptor signaling pathway (COL3A1, DUPS22, P=0.068). We conclude that rare genetic variants may contribute to the pathogenesis of CeAD, in particular in patients with a microscopic connective tissue phenotype. |
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| Item Description: | Gesehen am 29.05.2019 |
| Physical Description: | Online Resource |
| ISSN: | 1476-5438 |
| DOI: | 10.1038/ejhg.2012.82 |