The Contribution of Deleterious Rare Alleles in ENPP1 and Osteomalacia Causative Genes to Atypical Femoral Fracture.
Hiroshi FurukawaShomi OkaNaoki KondoYasuaki NakagawaNaofumi ShiotaKenji KumagaiKeiji AndoTsutao TakeshitaTakenori OdaYoshinori TakahashiKazutaka IzawaYoichi IwasakiKazuhiro HasegawaHiroshi ArinoTakeshi MinamizakiNorie YoshikawaShinjiro TakataYasuo YoshiharaShigeto TohmaPublished in: The Journal of clinical endocrinology and metabolism (2022)
AFF is associated with genes including ENPP1 that cause abnormal mineralization, suggesting that osteomalacia is an underlying condition predisposing to AFF and that higher incident rates of AFFs in Asian populations might be explained by the genetic risk factors including ENPP1.