Angiotensin-converting enzyme insertion/deletion gene polymorphism in patients with familial multiple cerebral cavernous malformations

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dc.authoridElmaci, Ilhan/0000-0001-9433-0307
dc.authoridISIK, NEJAT/0000-0002-6809-4969
dc.authoridSahin, Fikrettin/0000-0003-1503-5567
dc.authoridBayrak, Omer Faruk/0000-0001-7562-6604
dc.contributor.authorAltas, M.
dc.contributor.authorBayrak, O. F.
dc.contributor.authorCerci, A.
dc.contributor.authorIsik, N.
dc.contributor.authorCelik, M.
dc.contributor.authorCulha, M.
dc.contributor.authorSahin, F.
dc.date.accessioned2024-09-18T19:54:22Z
dc.date.available2024-09-18T19:54:22Z
dc.date.issued2010
dc.departmentHatay Mustafa Kemal Üniversitesien_US
dc.description.abstractCavernous malformations can occur in both sporadic and autosomal dominant forms. The aim of this study was to investigate the potential role of insertion/deletion (I/D) polymorphisms of the angiotensin-converting enzyme (ACE) gene in the development of cerebral cavernous malformations (CCM). Forty-one members of two families affected by familial CCM were included in this study. DNA was isolated from peripheral venous blood, and polymerase chain reaction analysis was used to detect I/D polymorphisms of the ACE gene, using HACE3s and HACE3as as primers. Only 10 participants had MRI-confirmed CCM. Of these 10 subjects, seven had the I/D, two had the DID, and one had the I/I genotype. Of the remaining 31 subjects, 14 had the I/I, 13 had the I/D, and four had the D/D genotype. There was a greater proportion of subjects with the D allele among those with MRI-confirmed CCM than among those without (p<0.05). These results suggest that the D polymorphism of the ACE gene may be involved in the pathogenesis of familial CCM. (C) 2010 Elsevier Ltd. All rights reserved.en_US
dc.identifier.doi10.1016/j.jocn.2009.12.002
dc.identifier.endpage1037en_US
dc.identifier.issn0967-5868
dc.identifier.issue8en_US
dc.identifier.pmid20488708en_US
dc.identifier.scopus2-s2.0-77953869411en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage1034en_US
dc.identifier.urihttps://doi.org/10.1016/j.jocn.2009.12.002
dc.identifier.urihttps://hdl.handle.net/20.500.12483/7691
dc.identifier.volume17en_US
dc.identifier.wosWOS:000279726700018en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevier Sci Ltden_US
dc.relation.ispartofJournal of Clinical Neuroscienceen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAngiotensin-converting enzymeen_US
dc.subjectFamilial cerebral cavernous malformationsen_US
dc.subjectPolymorphismen_US
dc.titleAngiotensin-converting enzyme insertion/deletion gene polymorphism in patients with familial multiple cerebral cavernous malformationsen_US
dc.typeArticleen_US

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