rs10264803 - SDK1

Magnitude 2.2 · 1 study on file

Reported associations

  • A genome-wide association meta-analysis implicates Hedgehog and Notch signaling in Dupuytren's disease - Unknown journal (n.d.) · Unknown authors · PubMed 38172110

    ABSTRACT: Dupuytren's disease (DD) is a highly heritable fibrotic disorder of the hand with incompletely understood etiology. A number of genetic loci, including Wnt signaling members, have been previously identified. Our overall aim was to identify novel genetic loci, to prioritize genes within the loci for functional studies, and to assess genetic correlation with associated disorders. We performed a meta-analysis of six DD genome-wide association studies from three European countries and extensive bioinformatic follow-up analyses. Leveraging 11,320 cases and 47,023 controls, we identified 85 genome-wide significant single nucleotide polymorphisms in 56 loci, of which 11 were novel, explaining 13.3-38.1% of disease variance. Gene prioritization implicated the Hedgehog and Notch signa


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Lifestyle context

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

Screening

  • periodic hand examination for Dupuytren's disease Moderate

    rs10264803 T allele shows strong GWAS association with Dupuytren's disease susceptibility (p=5e-13, effect=0.128, n=58343)

    annual or biennial clinical hand examination; report any progressive finger contractures to provider