Identification of novel genetic variants that predispose to Paget's disease of bone by genome wide association

Bone ◽  
2009 ◽  
Vol 44 ◽  
pp. S224-S225 ◽  
Author(s):  
O.M.E. Albagha ◽  
M.R. Visconti ◽  
N. Alonso ◽  
P.L. Riches ◽  
A.L. Langston ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Genome Wide Association ◽  
Paget's Disease Of Bone ◽  
Genome Wide

scholarly journals Genetic Determinants of Paget’s Disease of Bone

2021 ◽  
Author(s):  
Navnit S. Makaram ◽  
Stuart H. Ralston
Keyword(s):  
Genetic Factors ◽  
Association Studies ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Genome Wide Association Studies ◽  
Paget's Disease Of Bone ◽  
Genome Wide ◽  
Family Based

Abstract Purpose of Review To provide an overview of the role of genes and loci that predispose to Paget’s disease of bone and related disorders. Recent Findings Studies over the past ten years have seen major advances in knowledge on the role of genetic factors in Paget’s disease of bone (PDB). Genome wide association studies have identified six loci that predispose to the disease whereas family based studies have identified a further eight genes that cause PDB. This brings the total number of genes and loci implicated in PDB to fourteen. Emerging evidence has shown that a number of these genes also predispose to multisystem proteinopathy syndromes where PDB is accompanied by neurodegeneration and myopathy due to the accumulation of abnormal protein aggregates, emphasising the importance of defects in autophagy in the pathogenesis of PDB. Summary Genetic factors play a key role in the pathogenesis of PDB and the studies in this area have identified several genes previously not suspected to play a role in bone metabolism. Genetic testing coupled to targeted therapeutic intervention is being explored as a way of halting disease progression and improving outcome before irreversible skeletal damage has occurred.

The majority of the genetic risk for Paget’s disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes

2010 ◽  
Vol 128 (6) ◽  
pp. 615-626 ◽  
Author(s):  
Pui Yan Jenny Chung ◽  
Greet Beyens ◽  
Steven Boonen ◽  
Socrates Papapoulos ◽  
Piet Geusens ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Genetic Risk ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Paget's Disease Of Bone

Genetic variants in the optineurin gene are associated with disease severity in Paget's disease of bone

Bone ◽  
2011 ◽  
Vol 48 ◽  
pp. S157 ◽  
Author(s):  
R. Obaid ◽  
W.D. Fraser ◽  
P.L. Selby ◽  
S.H. Ralston ◽  
O.M. Albagha
Keyword(s):  
Disease Severity ◽  
Genetic Variants ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Paget's Disease Of Bone

scholarly journals Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone

2018 ◽  
Vol 1864 (1) ◽  
pp. 143-151 ◽  
Author(s):  
Iris A.L. Silva ◽  
Natércia Conceição ◽  
Édith Gagnon ◽  
Helena Caiado ◽  
Jacques P. Brown ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Paget's Disease Of Bone

Identification of rare genetic variants in novel loci associated with Paget’s disease of bone

2013 ◽  
Vol 133 (6) ◽  
pp. 755-768 ◽  
Author(s):  
Mariejka Beauregard ◽  
Edith Gagnon ◽  
Sabrina Guay-Bélanger ◽  
Jean Morissette ◽  
Jacques P. Brown ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Paget's Disease Of Bone ◽  
Rare Genetic Variants
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