RGD Reference Report - Angiotensin-converting enzyme insertion/deletion gene polymorphism in patients with familial multiple cerebral cavernous malformations. - Rat Genome Database

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

Authors: Altas, M  Bayrak, OF  Cerci, A  Isik, N  Celik, M  Culha, M  Sahin, F  Elmaci, I 
Citation: Altas M, etal., J Clin Neurosci. 2010 Aug;17(8):1034-7. doi: 10.1016/j.jocn.2009.12.002. Epub 2010 May 21.
RGD ID: 11039024
Pubmed: PMID:20488708   (View Abstract at PubMed)
DOI: DOI:10.1016/j.jocn.2009.12.002   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Familial Cerebral Cavernous Malformation  IAGP 11039024DNA:deletion:intron:IVS16+1464-1751del (human)RGD 
Familial Cerebral Cavernous Malformation  ISOACE (Homo sapiens)11039024; 11039024DNA:deletion:intron:IVS16+1464-1751del (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ace  (angiotensin I converting enzyme)

Genes (Mus musculus)
Ace  (angiotensin I converting enzyme)

Genes (Homo sapiens)
ACE  (angiotensin I converting enzyme)


Additional Information