TY - JOUR
T1 - Angiotensin-converting enzyme insertion/deletion gene polymorphism in patients with familial multiple cerebral cavernous malformations
AU - Altas, M.
AU - Bayrak, O. F.
AU - Cerci, A.
AU - Isik, N.
AU - Celik, M.
AU - Culha, M.
AU - Sahin, F.
AU - Elmaci, I.
PY - 2010/8
Y1 - 2010/8
N2 - 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.
AB - 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.
KW - Angiotensin-converting enzyme
KW - Familial cerebral cavernous malformations
KW - Polymorphism
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U2 - 10.1016/j.jocn.2009.12.002
DO - 10.1016/j.jocn.2009.12.002
M3 - Article
C2 - 20488708
AN - SCOPUS:77953869411
SN - 0967-5868
VL - 17
SP - 1034
EP - 1037
JO - Journal of Clinical Neuroscience
JF - Journal of Clinical Neuroscience
IS - 8
ER -