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International Orthopaedics

, Volume 43, Issue 3, pp 519–530 | Cite as

Osteonecrosis of the femoral head: genetic basis

  • Tracy WangEmail author
  • Bouziane Azeddine
  • Wayne Mah
  • Edward J. Harvey
  • David Rosenblatt
  • Chantal SéguinEmail author
Review

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.

Keywords

Osteonecrosis of the femoral head Polymorphisms Coagulation defects Steroids Immunity Hereditary ONFH TRPV4 

Abbreviations

ABCB1

adenosine triphosphate-binding cassette B1

ACE

angiotensin I converting enzyme

ANXA2

annexin A2

ApoB

apoliprotein B

AVN

avascular necrosis

BMP

Bone morphogenetic protein

CAT

catalase

CBP

CREB-binding protein

COL2A1

Collagen 2 aplha 1

CTDP1

C-terminal domain of RNA polymerase II subunit A, phosphatase of subunit 1

CYP27C1

cytochrome P450, family 27, subfamily C, polypeptide 1

eNOS

endothelial nitric oxide synthase

GRIN3A

Glutamate Receptor, Ionotropic, N-Methyl-D-Aspartate 3A

IGF

Insulin-like growth factors

IGFBP3

Insulin-like growth factor binding protein 3

IGFBP-3

Insulin-like growth factors binding protein

IL

Interleukin

KDR

Kinase insert domain receptor

LCPD

Legg-Calvé-Perthes disease

MDR1

Multidrug resistance 1

MRI

magnetic resonance imaging

MTHFR

5, 10-methylenetetrahydrofolate reductase

NRP1

Neuropilin 1

ONFH

osteonecrosis of the femoral head

PAI-1

Plasminogen activator inhibitor-1

P-gp

P-glycoprotein

PLAT or TPA

tissue plasminogen activator

PON-1

paraoxonase 1

SNP

single nucleotide polymorphism

SREBF1

Sterol regulatory element-binding transcription factor 1

SREBF2

Sterol regulatory element-binding transcription factor 2

TF

Transferrin

TFPI

Tissue factor pathway inhibitor

TGF-β

Transforming growth factor

TNF-α

Tumor necrosis factor

TRPV4

Transient receptor potential vanilloid 4

VDR

vitamin D receptor

VEGFC

Vascular endothelial growth factor C

Notes

Acknowledgements

The authors gratefully acknowledge Dr. Terry Chow for reviewing the manuscript. This work was supported by awards to C. Séguin from the Fonds de la Recherche en Santé du Québec (FRQ-S) and from the Montreal General Hospital Foundation. C. Séguin is also supported by awards from the Canadian and US Leukemia & Lymphoma Societies.

Authors’ contributions

All authors read and approved the final manuscript. TW performed the literature search and participated in writing the first draft, BA finalized the literature search and participated in writing of the manuscript, finalizing the last version. TW and BA participated equally to this manuscript. EJH and DR helped to draft the manuscript and made an extensive revision. CS participated in the design of the review, its coordination and helped to draft the manuscript and finalizing the last version.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© SICOT aisbl 2018

Authors and Affiliations

  • Tracy Wang
    • 1
    Email author
  • Bouziane Azeddine
    • 1
  • Wayne Mah
    • 1
  • Edward J. Harvey
    • 2
  • David Rosenblatt
    • 3
  • Chantal Séguin
    • 1
    • 4
    • 5
    Email author
  1. 1.Vascular Biology Research lab, Research Institute (RI) McGill University Health CentreC9 Montreal General HospitalQCCanada
  2. 2.Department Surgery, Division Orthopaedic Surgery, McGill University Health CentreB5 Montreal General HospitalQCCanada
  3. 3.Department of Human GeneticsMcGill UniversityQuebecCanada
  4. 4.Department of Medicine, Division of Hematology and OncologyMcGill University Health CentreQuebecCanada
  5. 5.Glen Site, Cedars Cancer CentreMcGill University Health CentreQuebecCanada

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