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International Orthopaedics

Erschienen in:

17.10.2018 | Review

Osteonecrosis of the femoral head: genetic basis

verfasst von: Tracy Wang, Bouziane Azeddine, Wayne Mah, Edward J. Harvey, David Rosenblatt, Chantal Séguin

Erschienen in: International Orthopaedics | Ausgabe 3/2019

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ABSTRACT

Purpose

Genetic factors and hereditary forms of osteonecrosis of the femoral head (ONFH) have been elucidated through genetic association studies. The significance of these cases is that they suggest an alternative hypothesis to the development of the disease. This review presents a summary of single nucleotide polymorphisms (SNPs) and other genetic mutation variations found in association with ONFH, including our recent identification of a novel mutation in the transient receptor potential vanilloid 4 (TRPV4) gene in association with inherited ONFH. The purpose of this review is to consolidate and categorize genetic linkages according to physiological pathways.

Methods

A systematic review of literature from PubMed and Google Scholar was undertaken with a focus on genetic linkages and hereditary case studies of the disease. Recent genetic analysis studies published after 2007 were the focus of genetic linkages in non-hereditary cases.

Results

The summary of these genetic findings identifies biological processes believed to be involved in the development of ONFH, which include circulation, steroid metabolism, immunity, and the regulation of bone formation.

Conclusion

Taken together, these associations may lead to new pathways of bone repair and remodeling while opening new avenues for therapeutic targets. Knowledge of genetic variations could help identify individuals considered to be at higher risk of developing ONFH and prevent the multiple hit effect.

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Titel: Osteonecrosis of the femoral head: genetic basis
verfasst von: Tracy Wang
Bouziane Azeddine
Wayne Mah
Edward J. Harvey
David Rosenblatt
Chantal Séguin
Publikationsdatum: 17.10.2018
Verlag: Springer Berlin Heidelberg
Erschienen in: International Orthopaedics / Ausgabe 3/2019
Print ISSN: 0341-2695
Elektronische ISSN: 1432-5195
DOI: https://doi.org/10.1007/s00264-018-4172-8

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Update Orthopädie und Unfallchirurgie

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Springer Medizin

ABSTRACT

Purpose

Methods

Results

Conclusion

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