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Genetic Imbalance in Patients with Cervical Artery Dissection

Grond-Ginsbach, C. (author)
Chen, B. W. (author)
Krawczak, M. (author)
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Pjontek, R. (author)
Ginsbach, P. (author)
Jiang, Y. X. (author)
Abboud, S. (author)
Arnold, M. L. (author)
Bersano, A. (author)
Brandt, T. (author)
Caso, V. (author)
Debette, S. (author)
Dichgans, M. (author)
Geschwendtner, A. (author)
Giacalone, G. (author)
Martin, J. J. (author)
Metso, A. J. (author)
Metso, T. M. (author)
Grau, A. J. (author)
Kloss, M. (author)
Lichy, C. (author)
Pezzini, A. (author)
Traenka, C. (author)
Schreiber, S. (author)
Thijs, V. (author)
Touze, E. (author)
Del Zott, E. (author)
Tatlisumak, Turgut (author)
Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology
Leys, D. (author)
Lyrer, P. A. (author)
Engelter, S. T. (author)
Cadisp Grp, Cadisp Grp (author)
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 (creator_code:org_t)
Bentham Science Publishers Ltd. 2017
2017
English.
In: Current Genomics. - : Bentham Science Publishers Ltd.. - 1389-2029. ; 18:2, s. 206-213
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Background: Genetic and environmental risk factors are assumed to contribute to the susceptibility to cervical artery dissection (CeAD). To explore the role of genetic imbalance in the etiology of CeAD, copy number variants (CNVs) were identified in high-density microarrays samples from the multicenter CADISP (Cervical Artery Dissection and Ischemic Stroke Patients) study and from control subjects from the CADISP study and the German PopGen biobank. Microarray data from 833 CeAD patients and 2040 control subjects (565 subjects with ischemic stroke due to causes different from CeAD and 1475 disease-free individuals) were analyzed. Rare genic CNVs were equally frequent in CeAD-patients (16.4%; n=137) and in control subjects (17.0%; n=346) but differed with respect to their genetic content. Compared to control subjects, CNVs from CeAD patients were enriched for genes associated with muscle organ development and cell differentiation, which suggests a possible association with arterial development. CNVs affecting cardiovascular system development were more common in CeAD patients than in control subjects (p=0.003; odds ratio (OR) =2.5; 95% confidence interval (95% CI) = 1.4-4.5) and more common in patients with a familial history of CeAD than in those with sporadic CeAD (p=0.036; OR=11.2; 95% CI=1.2-107). Conclusion: The findings suggest that rare genetic imbalance affecting cardiovascular system development may contribute to the risk of CeAD. Validation of these findings in independent study populations is warranted.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Neurologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Neurology (hsv//eng)

Keyword

Copy number variation
Cervical artery dissection
Rare genetic variation
Cardiovascular system development
copy-number variation
congenital heart-disease
ischemic-stroke
risk-factors
genome
variants
mutation
cnvs
Biochemistry & Molecular Biology
Genetics & Heredity

Publication and Content Type

ref (subject category)
art (subject category)

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