Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review

Ana Rita Couto; Bruna Parreira; Deborah M. Power; Luís Pinheiro; João Madruga Dias; Irina Novofastovski; Iris Eshed; Piercarlo Sarzi-Puttini; Nicola Pappone; Fabiola Atzeni; Jorrit Jan Verlaan; Jonneke Kuperus; Amir Bieber; Pasquale Ambrosino; David Kiefer; Muhammad Asim Khan; Reuven Mader; Xenofon Baraliakos; Jácome Bruges-Armas

doi:10.3389/fgene.2022.987867

Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review

Ana Rita Couto, Bruna Parreira, Deborah M. Power, Luís Pinheiro, João Madruga Dias, Irina Novofastovski, Iris Eshed, Piercarlo Sarzi-Puttini, Nicola Pappone, Fabiola Atzeni, Jorrit Jan Verlaan, Jonneke Kuperus, Amir Bieber, Pasquale Ambrosino, David Kiefer, Muhammad Asim Khan, Reuven Mader, Xenofon Baraliakos, Jácome Bruges-Armas^*

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

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Abstract

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.

Original language	English
Article number	987867
Pages (from-to)	1-18
Number of pages	18
Journal	Frontiers in Genetics
Volume	13
DOIs	https://doi.org/10.3389/fgene.2022.987867
Publication status	Published - 7 Oct 2022

Keywords

diffuse idiopathic skeletal hyperostosis
ectopic calcification
genetics
ossification
ossification of posterior longitudinal ligament

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10.3389/fgene.2022.987867Licence: CC BY

fgene-13-987867Final published version, 1.11 MBLicence: CC BY

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Couto, A. R., Parreira, B., Power, D. M., Pinheiro, L., Madruga Dias, J., Novofastovski, I., Eshed, I., Sarzi-Puttini, P., Pappone, N., Atzeni, F., Verlaan, J. J., Kuperus, J., Bieber, A., Ambrosino, P., Kiefer, D., Khan, M. A., Mader, R., Baraliakos, X., & Bruges-Armas, J. (2022). Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review. Frontiers in Genetics, 13, 1-18. Article 987867. https://doi.org/10.3389/fgene.2022.987867

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title = "Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review",

abstract = "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.",

keywords = "diffuse idiopathic skeletal hyperostosis, ectopic calcification, genetics, ossification, ossification of posterior longitudinal ligament",

author = "Couto, {Ana Rita} and Bruna Parreira and Power, {Deborah M.} and Lu{\'i}s Pinheiro and {Madruga Dias}, Jo{\~a}o and Irina Novofastovski and Iris Eshed and Piercarlo Sarzi-Puttini and Nicola Pappone and Fabiola Atzeni and Verlaan, {Jorrit Jan} and Jonneke Kuperus and Amir Bieber and Pasquale Ambrosino and David Kiefer and Khan, {Muhammad Asim} and Reuven Mader and Xenofon Baraliakos and J{\'a}come Bruges-Armas",

note = "Publisher Copyright: Copyright {\textcopyright} 2022 Couto, Parreira, Power, Pinheiro, Madruga Dias, Novofastovski, Eshed, Sarzi-Puttini, Pappone, Atzeni, Verlaan, Kuperus, Bieber, Ambrosino, Kiefer, Khan, Mader, Baraliakos and Bruges-Armas.",

year = "2022",

month = oct,

day = "7",

doi = "10.3389/fgene.2022.987867",

language = "English",

volume = "13",

pages = "1--18",

journal = "Frontiers in Genetics",

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Couto, AR, Parreira, B, Power, DM, Pinheiro, L, Madruga Dias, J, Novofastovski, I, Eshed, I, Sarzi-Puttini, P, Pappone, N, Atzeni, F, Verlaan, JJ, Kuperus, J, Bieber, A, Ambrosino, P, Kiefer, D, Khan, MA, Mader, R, Baraliakos, X & Bruges-Armas, J 2022, 'Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review', Frontiers in Genetics, vol. 13, 987867, pp. 1-18. https://doi.org/10.3389/fgene.2022.987867

Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review. / Couto, Ana Rita; Parreira, Bruna; Power, Deborah M. et al.
In: Frontiers in Genetics, Vol. 13, 987867, 07.10.2022, p. 1-18.

Research output: Contribution to journal › Review article › peer-review

TY - JOUR

T1 - Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis

T2 - A narrative review

AU - Couto, Ana Rita

AU - Parreira, Bruna

AU - Power, Deborah M.

AU - Pinheiro, Luís

AU - Madruga Dias, João

AU - Novofastovski, Irina

AU - Eshed, Iris

AU - Sarzi-Puttini, Piercarlo

AU - Pappone, Nicola

AU - Atzeni, Fabiola

AU - Verlaan, Jorrit Jan

AU - Kuperus, Jonneke

AU - Bieber, Amir

AU - Ambrosino, Pasquale

AU - Kiefer, David

AU - Khan, Muhammad Asim

AU - Mader, Reuven

AU - Baraliakos, Xenofon

AU - Bruges-Armas, Jácome

N1 - 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.

PY - 2022/10/7

Y1 - 2022/10/7

N2 - 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.

AB - 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.

KW - diffuse idiopathic skeletal hyperostosis

KW - ectopic calcification

KW - genetics

KW - ossification

KW - ossification of posterior longitudinal ligament

UR - http://www.scopus.com/inward/record.url?scp=85140474101&partnerID=8YFLogxK

U2 - 10.3389/fgene.2022.987867

DO - 10.3389/fgene.2022.987867

M3 - Review article

C2 - 36276944

AN - SCOPUS:85140474101

SN - 1664-8021

VL - 13

SP - 1

EP - 18

JO - Frontiers in Genetics

JF - Frontiers in Genetics

M1 - 987867

ER -

Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review

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Corrigendum: Evidence for a genetic contribution to the ossification of spinal ligaments in ossification of posterior longitudinal ligament and diffuse idiopathic skeletal hyperostosis: a narrative review(Front. Genet., (2022), 13, (987867), 10.3389/fgene.2022.987867)

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