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

• Published in: Journal of clinical neuroscience Vol. 17; no. 8; pp. 1034 - 1037
• Main Authors: Altas, M., Bayrak, O.F., Cerci, A., Isık, N., Celik, M., Culha, M., Sahin, F., Elmacı, I.
• Format: Journal Article
• Language: English
• Published: Scotland Elsevier Ltd 01.08.2010
• Subjects: Alleles; Angiotensin-converting enzyme; Central Nervous System Neoplasms - genetics; Chi-Square Distribution; Familial cerebral cavernous malformations; Gene Frequency; Genetic Predisposition to Disease; Genotype; Hemangioma, Cavernous, Central Nervous System - genetics; Humans; Neurology; Pedigree; Peptidyl-Dipeptidase A - genetics; Polymorphism; Polymorphism, Genetic; Familial cerebral cavernous malformations; Angiotensin-converting enzyme; Polymorphism
• ISSN: 0967-5868; 1532-2653; 1532-2653
• DOI: 10.1016/j.jocn.2009.12.002

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 D/D, 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.