Genome-Wide Association Study of the Relationship Between Matrix Metalloproteinases and Intracranial Aneurysms.

ABSTRACT:

Background and purpose

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.

Methods

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).

Results

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

SUBMITTER: Kim BJ 

PROVIDER: S-EPMC8926758 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature