Expressive

rs10272945 - NXPH1 - GAPDHP68

Magnitude 2.2 · 1 study on file

Reported associations

  • A Genome-Wide Association Study of Idiopathic Dilated Cardiomyopathy in African Americans - Unknown journal (n.d.) · Unknown authors · PubMed 29495422

    ABSTRACT: Idiopathic dilated cardiomyopathy (IDC) is the most common form of non-ischemic chronic heart failure. Despite the higher prevalence of IDC in African Americans, the genetics of IDC have been relatively understudied in this ethnic group. We performed a genome-wide association study to identify susceptibility genes for IDC in African Americans recruited from five sites in the U.S. (662 unrelated cases and 1167 controls). The heritability of IDC was calculated to be 33% (95% confidence interval: 19-47%; p = 6.4 × 10−7). We detected association of a variant in a novel intronic locus in the CACNB4 gene meeting genome-wide levels of significance (p = 4.1 × 10−8). The CACNB4 gene encodes a calcium channel subunit expressed in the heart that is important for cardiac muscle contr

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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • Genetic risk assessment for dilated cardiomyopathy Moderate

    rs10272945 C allele carriers have 5 percent increased risk of dilated cardiomyopathy

Screening

  • Baseline echocardiography for cardiomyopathy assessment Moderate

    Variant associated with increased dilated cardiomyopathy risk per genome-wide association study