| Copy number variation in patients with cervical artery dissection. | |
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MedLine Citation:
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PMID: 22617347 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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.European Journal of Human Genetics advance online publication, 23 May 2012; doi:10.1038/ejhg.2012.82. |
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Authors:
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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 |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-5-23 |
Journal Detail:
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Title: European journal of human genetics : EJHG Volume: - ISSN: 1476-5438 ISO Abbreviation: - Publication Date: 2012 May |
Date Detail:
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Created Date: 2012-5-23 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Neurology, University of Heidelberg, Heidelberg, Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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