rs11950646 - SLC23A1

Magnitude 2.2 · 1 study on file

Reported associations

• Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience - Unknown journal (n.d.) · Unknown authors · PubMed 39572784

  ABSTRACT: Dilated cardiomyopathy (DCM) is a heart muscle disease that represents an important cause of morbidity and mortality, yet causal mechanisms remain largely elusive. Here, we perform a large-scale genome-wide association study and multitrait analysis for DCM using 9,365 cases and 946,368 controls. We identify 70 genome-wide significant loci, which show broad replication in independent samples and map to 63 prioritized genes. Tissue, cell type and pathway enrichment analyses highlight the central role of the cardiomyocyte and contractile apparatus in DCM pathogenesis. Polygenic risk scores constructed from our genome-wide association study predict DCM across different ancestry groups, show differing contributions to DCM depending on rare pathogenic variant status and associate with

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