RGD Reference Report - The role of MMP-2 and MMP-9 polymorphisms in sporadic intracranial aneurysms. - Rat Genome Database

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The role of MMP-2 and MMP-9 polymorphisms in sporadic intracranial aneurysms.

Authors: Pannu, H  Kim, DH  Guo, D  King, TM  Van Ginhoven, G  Chin, T  Chang, K  Qi, Y  Shete, S  Milewicz, DM 
Citation: Pannu H, etal., J Neurosurg. 2006 Sep;105(3):418-23.
RGD ID: 1582646
Pubmed: PMID:16961137   (View Abstract at PubMed)
DOI: DOI:10.3171/jns.2006.105.3.418   (Journal Full-text)

OBJECT: Matrix metalloproteinases (MMPs) are a family of endopeptidases that mediate vascular remodeling by degrading extracellular matrix components, such as collagen and elastin. On the basis of accumulating evidence that implicates increased MMP-2 (gelatinase A) and MMP-9 (gelatinase B) amounts and activity in the pathogenesis of aneurysms, the authors investigated the genetic association between polymorphisms in MMP-2 and MMP-9 and sporadic intracranial aneurysms. METHODS: Eight polymorphisms located in MMP-2 and MMP-9 were genotyped, and the association of these variations with disease was assessed in a Caucasian population consisting of 125 patients with intracranial aneurysms and 234 ethnically matched healthy volunteers. Polymorphisms in the MMP-2 gene and the haplotypes generated from these polymorphisms were not associated with the occurrence of intracranial aneurysms. However, a polymorphism located in the 3' untranslated region of MMP-9 showed a significant association with disease in the study population, with individuals carrying the TT genotype at increased risk for developing intracranial aneurysms (odds ratio 1.91, p = 0.005). Haplotypes containing the T allele of this polymorphism also showed a comparable association with disease. Similar results were obtained in an analysis of these polymorphisms in a subgroup of patients who presented with ruptured aneurysms. CONCLUSIONS: The study findings support a role for MMP-9, but not MMP-2, in the pathogenesis of intracranial aneurysms.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
intracranial aneurysm susceptibilityIAGP 1582646; 1582646 RGD 
intracranial aneurysm susceptibilityISOMMP2 (Homo sapiens)1582646; 1582646 RGD 
intracranial aneurysm susceptibilityISOMMP9 (Homo sapiens)1582646; 1582646 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mmp2  (matrix metallopeptidase 2)
Mmp9  (matrix metallopeptidase 9)

Genes (Mus musculus)
Mmp2  (matrix metallopeptidase 2)
Mmp9  (matrix metallopeptidase 9)

Genes (Homo sapiens)
MMP2  (matrix metallopeptidase 2)
MMP9  (matrix metallopeptidase 9)


Additional Information