Document Detail

Copy number variation in patients with cervical artery dissection.
MedLine Citation:
PMID:  22617347     Owner:  NLM     Status:  MEDLINE    
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.
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:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2012-05-23
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  20     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-11-15     Completed Date:  2013-04-29     Revised Date:  2013-12-06    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  1295-9     Citation Subset:  IM    
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MeSH Terms
Carotid Artery, Internal, Dissection / genetics*
Case-Control Studies
Collagen / genetics,  metabolism
Connective Tissue / pathology
DNA Copy Number Variations*
Extracellular Matrix / genetics,  metabolism
Gene Deletion
Gene Duplication
Genetic Association Studies
Genetic Loci
Transforming Growth Factors / genetics,  metabolism
Vertebral Artery Dissection / genetics*
Reg. No./Substance:
76057-06-2/Transforming Growth Factors; 9007-34-5/Collagen

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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