title: Angiotensin-converting enzyme insertion/deletion gene polymorphism in patients with familial multiple cerebral cavernous malformations.
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 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.
authors.affiliation: Department of Neurosurgery, Tayfur Ata Sokmen Medical Faculty, Mustafa Kemal University, Antakya/Hatay 31700, Turkey. draltasmurat@yahoo.com
authors.forename: M
authors.initials: M
authors.lastname: Altas
authors.forename: O F
authors.initials: OF
authors.lastname: Bayrak
authors.forename: A
authors.initials: A
authors.lastname: Cerci
authors.forename: N
authors.initials: N
authors.lastname: Isik
authors.forename: M
authors.initials: M
authors.lastname: Celik
authors.forename: M
authors.initials: M
authors.lastname: Culha
authors.forename: F
authors.initials: F
authors.lastname: Sahin
authors.forename: I
authors.initials: I
authors.lastname: Elmaci
mesh_terms: D000483:Alleles; D016543:Central Nervous System Neoplasms / Q000235:genetics*; D016009:Chi-Square Distribution; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D020786:Hemangioma, Cavernous, Central Nervous System / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A