Article
MMP-9 coding sequence single nucleotide polymorphisms (cSNPs) in caucasians with intracranial aneurysms
Single nucleotide polymorphism (SNPs) in der kodierenden Region von MMP-9 in einer europäischen Population mit intrakraniellen Aneurysmen
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Published: | April 23, 2004 |
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Outline
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Objective
There are several lines of evidence suggesting that matrix metalloproteinases (MMPs), and particularly MMP-9, are involved in the pathogenesis of intracranial aneurysms. Genetic variants in the promoter region of the MMP-9 gene have been found to be associated with aneurysms in at least some studies. To investigate whether single nucleotide polymorphisms (SNPs) within the coding region of the MMP-9 gene might have an impact upon the development of intracranial aneurysms, we performed a case-control study.
Methods
All 13 exons and the 3´untranslated region (3´UTR) of the MMP-9 gene were analyzed by direct sequencing in a study group comprising 40 Caucasian patients with at least one intracranial aneurysm, and 44 Caucasian controls. Genotypes were determined, and those in Hardy-Weinberg disequilibrium were analyzed in another sample of 40 cases and 40 controls, respectively. Differences between the genotype frequencies of the identified polymorphisms were investigated.
Results
Seven SNPs were identified in the coding region, two in introns, and two in the 3´UTR. Genotype frequencies of four SNPs were found to be in Hardy-Weinberg disequilibrium in both analyzed study samples. Therefore, an accurate estimation of haplotype frequencies was not possible. No difference in genotype frequencies between cases and controls was detected at any of the ten SNPs.
Conclusions
SNPs of the coding region, adjacent intronic sequences, and the 3´UTR of the MMP-9 gene are not associated with intracranial aneurysms in Caucasians.