Genetic Determinants of Paget's Disease of Bone.

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 impor

SUBMITTER: Makaram NS 

PROVIDER: S-EPMC8310495 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature