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- W4214777701 abstract "Matrix metalloproteinases (MMPs) are expected to play an important role in extracellular matrix (ECM) remodeling in response to hemodynamic stress. We investigated the association between MMPs and intracranial aneurysms (IAs) via a genome-wide association study (GWAS) of IAs.A GWAS data set of 250 IAs and 294 controls was used to analyze the genetic link between MMPs and IAs via single-nucleotide polymorphisms (SNPs), MMP gene families, and in silico functional analyses of gene ontology (GO) enrichment and protein-protein interaction (PPI).Forty-eight SNPs and 1 indel out of 342 markers of MMP genes were related to IAs. The rs2425024 SNP located on MMP24 was the most strongly associated with IAs (OR=0.43, CI=0.30-0.61, p=2.4×10-6), suggesting a protective effect. The 16938619 SNP of MMP26 significantly increased the risk of an IA (OR=3.12, 95% CI=1.76-5.50, p=8.85×10-5). Five MMP genes (MMP24, MMP13, MMP2, MMP17, and MMP1) increased the susceptibility to an IA. MMP24 was the gene most closely related to IAs (p=7.96×10-7). GO analysis showed that collagen catabolism was the most-enhanced biological process. Further, metalloendopeptidase activity and ECM were predominantly detected in the cellular component and molecular function, respectively. PPI provided evidence that MMP2, TIMP2 (tissue inhibitor of metalloproteinase 2), and TIMP3 genes constitute a network for predicting IA formation.The present results provide comprehensive insight into the occurrence of IAs associated with MMPs." @default.
- W4214777701 created "2022-03-02" @default.
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- W4214777701 date "2022-02-14" @default.
- W4214777701 modified "2023-09-24" @default.
- W4214777701 title "Genome-Wide Association Study of the Relationship Between Matrix Metalloproteinases and Intracranial Aneurysms." @default.
- W4214777701 doi "https://doi.org/10.3988/jcn.2022.18.e6" @default.
- W4214777701 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35196751" @default.
- W4214777701 hasPublicationYear "2022" @default.
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