Expressive

rs116468452 - RN7SKP229 - ZNF648

Magnitude 4.5 · 1 study on file

Reported associations

  • PPARGC1B Is Associated with Nontraumatic Osteonecrosis of the Femoral Head: A Genomewide Association Study on a Chart-Reviewed Cohort. - The Journal of bone and joint surgery. American volume (2021) · Zhang Y, Bowen TR, Lietman SA, Suk M, Williams MS, Lee MTM · PubMed 32701715

    Previous studies have demonstrated the influence of heritable factors on the development of nontraumatic osteonecrosis of the femoral head (ONFH). We hypothesized that genetic variation is associated with an increased risk of ONFH, and that variants could be identified by a genomewide association study (GWAS). Using data collected from the MyCode Community Health Initiative, we identified 118 adult patients with radiographically confirmed nontraumatic ONFH. Study patients were statistically compared with a control population of 56,811 unrelated individuals without a diagnosis of ONFH. A case-control GWAS was performed to identify single nucleotide variants (SNVs) associated with ONFH. Sensitivity analyses were performed to evaluate the association of the top SNVs with (cortico)steroid-asso

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.

Lifestyle context

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

Discuss with your doctor

  • Corticosteroid therapy and ONFH risk Moderate

    The variant is associated with ONFH particularly in steroid-exposed individuals; carriers may require closer monitoring or alternative therapies

    If corticosteroid therapy is indicated, discuss alternative agents, duration, and monitoring with prescribing physician

Screening

  • Femoral head osteonecrosis symptoms and imaging Moderate

    rs116468452 carriers have 5.6-fold increased risk of avascular necrosis of the femoral head; early detection may improve clinical outcomes

    Discuss baseline hip imaging and symptom monitoring strategy with physician; seek evaluation if hip pain develops