TY - JOUR
T1 - Human Fibrosis
T2 - Is There Evidence for a Genetic Predisposition in Musculoskeletal Tissues?
AU - Dagneaux, Louis
AU - Owen, Aaron R.
AU - Bettencourt, Jacob W.
AU - Barlow, Jonathan D.
AU - Amadio, Peter C.
AU - Kocher, Jean P.
AU - Morrey, Mark E.
AU - Sanchez-Sotelo, Joaquin
AU - Berry, Daniel J.
AU - van Wijnen, Andre J.
AU - Abdel, Matthew P.
N1 - Funding Information:
Research reported in this publication was supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) of the National Institutes of Health (NIH) under Award Number AR072597 (Principal Investigator Matthew P. Abdel, MD) and the Anna-Maria and Stephen Kellen Foundation (Principal Investigator Matthew P. Abdel, MD). The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. Louis Dagneaux, MD, also reports funding from Société Française de Chirurgie Orthopédique et Traumatologique (SOFCOT) and the University of Montpellier (MUSE Explorer#2).
Funding Information:
Research reported in this publication was supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) of the National Institutes of Health (NIH) under Award Number AR072597 (Principal Investigator Matthew P. Abdel, MD) and the Anna-Maria and Stephen Kellen Foundation (Principal Investigator Matthew P. Abdel, MD). The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. Louis Dagneaux, MD, also reports funding from Soci?t? Fran?aise de Chirurgie Orthop?dique et Traumatologique (SOFCOT) and the University of Montpellier (MUSE Explorer#2).
Publisher Copyright:
© 2020 Elsevier Inc.
PY - 2020/11
Y1 - 2020/11
N2 - Background: Pathologic fibrosis is characterized by dysregulation of gene expression with excessive extracellular matrix production. The genetic basis for solid organ fibrosis is well described in the literature. However, there is a paucity of evidence for similar processes in the musculoskeletal (MSK) system. The purpose of this review is to provide an overview of existing evidence of genetic predisposition to pathologic fibrosis in the cardiac, pulmonary, and MSK systems, and to describe common genetic variants associated with these processes. Methods: A comprehensive search of several databases from 2000 to 2019 was conducted using relevant keywords in the English language. Genes reported as involved in idiopathic fibrotic processes in the heart, lung, hand, shoulder, and knee were recorded by 2 independent authors. Results: Among 2373 eligible studies, 52 studies investigated genetic predisposition in terms of variant analysis with the following organ system distribution: 36 pulmonary studies (69%), 15 hand studies (29%), and 1 knee study (2%). Twenty-two percent of gene variants identified were associated with both pulmonary and MSK fibrosis (ie, ADAM, HLA, CARD, EIF, TGF, WNT, and ZNF genes). Genetic variants known to be involved in the MSK tissue development or contractility properties in muscle were identified in the pulmonary fibrosis. Conclusion: Despite shared genetic variations in both the lung and hand, there remains limited information about genetic variants associated with fibrosis in other MSK regions. This finding establishes the necessity of further studies to elucidate the genetic determinants involved in the knee, shoulder, and other joint fibrotic pathways. Level of evidence: Level III.
AB - Background: Pathologic fibrosis is characterized by dysregulation of gene expression with excessive extracellular matrix production. The genetic basis for solid organ fibrosis is well described in the literature. However, there is a paucity of evidence for similar processes in the musculoskeletal (MSK) system. The purpose of this review is to provide an overview of existing evidence of genetic predisposition to pathologic fibrosis in the cardiac, pulmonary, and MSK systems, and to describe common genetic variants associated with these processes. Methods: A comprehensive search of several databases from 2000 to 2019 was conducted using relevant keywords in the English language. Genes reported as involved in idiopathic fibrotic processes in the heart, lung, hand, shoulder, and knee were recorded by 2 independent authors. Results: Among 2373 eligible studies, 52 studies investigated genetic predisposition in terms of variant analysis with the following organ system distribution: 36 pulmonary studies (69%), 15 hand studies (29%), and 1 knee study (2%). Twenty-two percent of gene variants identified were associated with both pulmonary and MSK fibrosis (ie, ADAM, HLA, CARD, EIF, TGF, WNT, and ZNF genes). Genetic variants known to be involved in the MSK tissue development or contractility properties in muscle were identified in the pulmonary fibrosis. Conclusion: Despite shared genetic variations in both the lung and hand, there remains limited information about genetic variants associated with fibrosis in other MSK regions. This finding establishes the necessity of further studies to elucidate the genetic determinants involved in the knee, shoulder, and other joint fibrotic pathways. Level of evidence: Level III.
KW - Dupuytren disease
KW - arthrofibrosis
KW - genetic predisposition
KW - musculoskeletal
KW - theragnostic
KW - total knee arthroplasty
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U2 - 10.1016/j.arth.2020.05.070
DO - 10.1016/j.arth.2020.05.070
M3 - Review article
C2 - 32593486
AN - SCOPUS:85086932586
SN - 0883-5403
VL - 35
SP - 3343
EP - 3352
JO - Journal of Arthroplasty
JF - Journal of Arthroplasty
IS - 11
ER -