rs1006009 - PSMB7 - ADGRD2

Magnitude 4.5 · 1 study on file

Reported associations

• Identification of Novel Genetic Markers for the Risk of Spinal Pathologies: A Genome-Wide Association Study of 2 Biobanks. - The Journal of bone and joint surgery. American volume (2025) · Bovonratwet P, Kulm S, Kolin DA, Song J, Morse KW, Cunningham ME, Albert TJ, Sandhu HS, Kim HJ, Iyer S, Elemento O, Qureshi SA · PubMed 36927824

  Identifying genetic risk factors for spinal disorders may lead to knowledge regarding underlying molecular mechanisms and the development of new treatments. Cases of lumbar spondylolisthesis, spinal stenosis, degenerative disc disease, and pseudarthrosis after spinal fusion were identified from the UK Biobank. Controls were patients without the diagnosis. Whole-genome regressions were used to test for genetic variants potentially implicated in the occurrence of each phenotype. External validation was performed in FinnGen. A total of 389,413 participants were identified from the UK Biobank. A locus on chromosome 2 spanning GFPT1, NFU1, AAK1, and LOC124906020 was implicated in lumbar spondylolisthesis. Two loci on chromosomes 2 and 12 spanning genes GFPT1, NFU1, and PDE3A were implicated in

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