scholarly journals Genome-wide association identifies three new susceptibility loci for Paget's disease of bone

2011 ◽  
Vol 43 (7) ◽  
pp. 685-689 ◽  
Author(s):  
Keyword(s):  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Genome Wide Association ◽  
Paget's Disease Of Bone ◽  
Susceptibility Loci ◽  
Genome Wide

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.

Paget's Disease of Bone

2006 ◽  
Vol 39 (11) ◽  
pp. 20
Author(s):  
Elizabeth Mechcatie ◽  
Lora T. McGlade
Keyword(s):  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Paget's Disease Of Bone

Variants in RIN3 predispose to Paget's disease of bone

2014 ◽  
Author(s):  
Maheva Vallet ◽  
Antonia Sophocleous ◽  
Jon Warner ◽  
Stewart W Morris ◽  
James F Wilson ◽  
...  
Keyword(s):  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Paget's Disease Of Bone
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