Genetics of Paget's Disease of Bone

Omar Al Bagha, Stuart H. Ralston

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Genetic factors play an important role in the pathogenesis of Paget's disease of bone (PDB). Familial clustering is common and first degree relatives of patients with the disease carry a seven-fold increased risk of developing the disease as compared with the general population. Linkage analysis in families coupled with genome-wide association studies have identified several loci and candidate gene that predispose to Paget's disease over recent years. The most important gene for familial Paget's is SQSTM1 which encodes p62 a protein involved in signal transduction downstream of the RANK receptor. Other candidate genes include CSF1, TNFRSF11A, TM7SF4, OPTN, and RIN3. Most of these genes are known to play a role in osteoclast differentiation and function which suggests that the abnormal osteoclast function in Paget's may be due to dysregulation of expression or function of these genes. Additional loci have been identified that predispose to PDB where the causal gene remains to be determined. Further research into the genetic basis of Paget's is likely to identify genetic variants that would be clinically useful in predicting disease occurrence and targeting treatment.

Original languageEnglish
Title of host publicationAdvances in Pathobiology and Management of Paget's Disease of Bone
PublisherElsevier Inc.
Pages25-36
Number of pages12
ISBN (Electronic)9780128096901
ISBN (Print)9780128050835
DOIs
Publication statusPublished - 9 May 2016
Externally publishedYes

Fingerprint

Osteitis Deformans
Inborn Genetic Diseases
Genes
Osteoclasts
Genetic Research
Genome-Wide Association Study
Cluster Analysis
Signal Transduction
Population
Proteins

Keywords

  • Genetics
  • Genome-wide association
  • OPTN
  • Paget's disease of bone
  • RANK
  • RIN3
  • SQSTM1

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Al Bagha, O., & Ralston, S. H. (2016). Genetics of Paget's Disease of Bone. In Advances in Pathobiology and Management of Paget's Disease of Bone (pp. 25-36). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-805083-5.00003-8

Genetics of Paget's Disease of Bone. / Al Bagha, Omar; Ralston, Stuart H.

Advances in Pathobiology and Management of Paget's Disease of Bone. Elsevier Inc., 2016. p. 25-36.

Research output: Chapter in Book/Report/Conference proceedingChapter

Al Bagha, O & Ralston, SH 2016, Genetics of Paget's Disease of Bone. in Advances in Pathobiology and Management of Paget's Disease of Bone. Elsevier Inc., pp. 25-36. https://doi.org/10.1016/B978-0-12-805083-5.00003-8
Al Bagha O, Ralston SH. Genetics of Paget's Disease of Bone. In Advances in Pathobiology and Management of Paget's Disease of Bone. Elsevier Inc. 2016. p. 25-36 https://doi.org/10.1016/B978-0-12-805083-5.00003-8
Al Bagha, Omar ; Ralston, Stuart H. / Genetics of Paget's Disease of Bone. Advances in Pathobiology and Management of Paget's Disease of Bone. Elsevier Inc., 2016. pp. 25-36
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