Autor(es):
Couto, Ana Rita ; Parreira, Bruna ; Power, Deborah M. ; Pinheiro, Luís ; Madruga Dias, João ; Novofastovski, Irina ; Eshed, Iris ; Sarzi-Puttini, Piercarlo ; Pappone, Nicola ; Atzeni, Fabiola ; Verlaan, Jorrit Jan ; Kuperus, Jonneke ; Bieber, Amir ; Ambrosino, Pasquale ; Kiefer, David ; Khan, Muhammad Asim ; Mader, Reuven ; Baraliakos, Xenofon ; Bruges-Armas, Jácome
Data: 2022
Identificador Persistente: http://hdl.handle.net/10362/145494
Origem: Repositório Institucional da UNL
Assunto(s): diffuse idiopathic skeletal hyperostosis; ectopic calcification; genetics; ossification; ossification of posterior longitudinal ligament; Molecular Medicine; Genetics; Genetics(clinical)
Descrição
Publisher Copyright: Copyright © 2022 Couto, Parreira, Power, Pinheiro, Madruga Dias, Novofastovski, Eshed, Sarzi-Puttini, Pappone, Atzeni, Verlaan, Kuperus, Bieber, Ambrosino, Kiefer, Khan, Mader, Baraliakos and Bruges-Armas.
Diffuse Idiopathic Skeletal Hyperostosis (DISH) and Ossification of the Posterior Longitudinal Ligament (OPLL) are common disorders characterized by the ossification of spinal ligaments. The cause for this ossification is currently unknown but a genetic contribution has been hypothesized. Over the last decade, many studies on the genetics of ectopic calcification disorders have been performed, mainly on OPLL. Most of these studies were based on linkage analysis and case control association studies. Animal models have provided some clues but so far, the involvement of the identified genes has not been confirmed in human cases. In the last few years, many common variants in several genes have been associated with OPLL. However, these associations have not been at definitive levels of significance and evidence of functional significance is generally modest. The current evidence suggests a multifactorial aetiopathogenesis for DISH and OPLL with a subset of cases showing a stronger genetic component.
