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

Altas M., Bayrak O. F., CERCI A., ISIK N., CELIK M., Culha M., ...More

JOURNAL OF CLINICAL NEUROSCIENCE, vol.17, no.8, pp.1034-1037, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 17 Issue: 8
  • Publication Date: 2010
  • Doi Number: 10.1016/j.jocn.2009.12.002
  • Journal Name: JOURNAL OF CLINICAL NEUROSCIENCE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1034-1037
  • Keywords: Angiotensin-converting enzyme, Familial cerebral cavernous malformations, Polymorphism, ENDOTHELIAL GROWTH-FACTOR, EPITHELIAL-MESENCHYMAL TRANSDIFFERENTIATION, VASCULAR MALFORMATIONS, EMBRYONIC LETHALITY, MUTATIONS, VEGF, EXPRESSION, CELLS, KRIT1, INACTIVATION
  • Akdeniz University Affiliated: No

Abstract

Cavernous 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.