Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures.
Wei ZhouJoel ÅsCatherine Shore-LorentiHanh H NguyenDenise M van de LaarschotShoshana Sztal-MazerVivian GrillChristian M GirgisBruno H Ch StrickerBram C J van der EerdenRajesh V ThakkerNatasha M Appelman-DijkstraMia WadeliusRoderick Clifton-BlighPär HallbergAnnemieke J M H VerkerkJeroen G J van RooijPeter R EbelingM Carola ZillikensPublished in: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research (2024)
While we did not identify genes enriched for damaging variants, we found suggestive evidence of a role for XRN2, PLOD2 and SORD, which requires further investigation. Our findings indicate that genetic factors responsible for AFFs are not widely shared among AFF cases. The study provides a stepping-stone for future larger genetic studies of AFF.