Altas, M.Bayrak, O. F.Cerci, A.Isik, N.Celik, M.Culha, M.Sahin, F.2024-09-182024-09-1820100967-5868https://doi.org/10.1016/j.jocn.2009.12.002https://hdl.handle.net/20.500.12483/7691Cavernous 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.eninfo:eu-repo/semantics/closedAccessAngiotensin-converting enzymeFamilial cerebral cavernous malformationsPolymorphismArticle1781034103710.1016/j.jocn.2009.12.002204887082-s2.0-77953869411Q1WOS:000279726700018Q4