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

作者：Altas M^*; Bayrak O F; Cerci A; Isik N; Celik M; Culha M; Sahin F; Elmaci I

来源：Journal of Clinical Neuroscience, 2010, 17(8): 1034-1037.

DOI：10.1016/j.jocn.2009.12.002

• Angiotensin-converting enzyme
• Familial cerebral cavernous malformations
• Polymorphism

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.

• 出版日期2010-8