rs11049368 - CCDC91

Magnitude 2.2 · 1 study on file

Reported associations

  • Genetic architecture of bone marrow fat fraction implies its involvement in osteoporosis risk - Unknown journal (n.d.) · Unknown authors · PubMed 40796918

    ABSTRACT: Bone marrow adipose tissue, as a distinct adipose subtype, has been implicated in the pathophysiology of skeletal, metabolic, and hematopoietic disorders. To identify its underlying genetic factors, we utilized a deep learning algorithm capable of quantifying bone marrow fat fraction (BMFF) in the vertebrae and proximal femur using magnetic resonance imaging data of over 38,000 UK Biobank participants. Genome-wide association analyses uncovered 373 significant BMFF-associated variants (P-value < 5 × 10−9), with enrichment in bone remodeling, metabolism, and hematopoiesis pathway. Furthermore, genetic correlation highlighted a significant association between BMFF and skeletal disease. In about 300,000 individuals, polygenic risk scores derived from three proximal femur BMFF


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