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Molecular genetics of Dupuytren’s contracture

• Dupuytren’s contracture (DC) is a fibroproliferative disorder of the palmar fascia characterised by the digits’ flexion contractures and is associated with abnormal build-up of type III collagen. The prevalence of the disease is reported to be highest among Northern European descendants. However,...

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Main Authors: Aissvarya, Shankar, Ling, King-Hwa, Arumugam, Manohar, Thilakavathy, Karuppiah
Format: Article
Language:English
Published: British Editorial Society of Bone and Joint Surgery 2024
Online Access:http://psasir.upm.edu.my/id/eprint/113909/1/113909.pdf
http://psasir.upm.edu.my/id/eprint/113909/
https://eor.bioscientifica.com/view/journals/eor/9/8/EOR-23-0056.xml
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spelling my.upm.eprints.1139092025-02-05T03:21:21Z http://psasir.upm.edu.my/id/eprint/113909/ Molecular genetics of Dupuytren’s contracture Aissvarya, Shankar Ling, King-Hwa Arumugam, Manohar Thilakavathy, Karuppiah • Dupuytren’s contracture (DC) is a fibroproliferative disorder of the palmar fascia characterised by the digits’ flexion contractures and is associated with abnormal build-up of type III collagen. The prevalence of the disease is reported to be highest among Northern European descendants. However, the disease is widespread globally with varying prevalence. • DC is a multifactorial disease, having both genetic and environmental factors contributing to the causality of the disease. • Over the years, various studies have been conducted to understand the molecular mechanism and genetic aspects of DC but there is a lack of reports on the variants found in the exonic regions. Most reports are backdated making it necessary to re-evaluate the variants to further understand the genetic aetiology of DC. • In this review, we first highlight the genetic aspects and previous genetic studies on DC. The report is followed by a discussion on the molecular pathways suggested to be associated with DC and a summary of the genetic variants in the exonic regions found in DC and their connections with the molecular pathways. • A total of nine variants were reported originating from six genes comprising three pathways. Most variants reported are involved in the Wnt signalling pathway. Moreover, all variants identified are in European/Caucasian subjects and the variants found in the exonic regions are missense variants. • A comparison of these findings with variants from populations of other regions can be conducted to identify the variants with the most occurrence to act as biomarkers or therapeutic targets for DC. British Editorial Society of Bone and Joint Surgery 2024-08-01 Article PeerReviewed text en cc_by_nc_4 http://psasir.upm.edu.my/id/eprint/113909/1/113909.pdf Aissvarya, Shankar and Ling, King-Hwa and Arumugam, Manohar and Thilakavathy, Karuppiah (2024) Molecular genetics of Dupuytren’s contracture. EFORT Open Reviews, 9 (8). pp. 723-732. ISSN 2396-7544; eISSN: 2058-5241 https://eor.bioscientifica.com/view/journals/eor/9/8/EOR-23-0056.xml 10.1530/EOR-23-0056
institution Universiti Putra Malaysia
building UPM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Putra Malaysia
content_source UPM Institutional Repository
url_provider http://psasir.upm.edu.my/
language English
description • Dupuytren’s contracture (DC) is a fibroproliferative disorder of the palmar fascia characterised by the digits’ flexion contractures and is associated with abnormal build-up of type III collagen. The prevalence of the disease is reported to be highest among Northern European descendants. However, the disease is widespread globally with varying prevalence. • DC is a multifactorial disease, having both genetic and environmental factors contributing to the causality of the disease. • Over the years, various studies have been conducted to understand the molecular mechanism and genetic aspects of DC but there is a lack of reports on the variants found in the exonic regions. Most reports are backdated making it necessary to re-evaluate the variants to further understand the genetic aetiology of DC. • In this review, we first highlight the genetic aspects and previous genetic studies on DC. The report is followed by a discussion on the molecular pathways suggested to be associated with DC and a summary of the genetic variants in the exonic regions found in DC and their connections with the molecular pathways. • A total of nine variants were reported originating from six genes comprising three pathways. Most variants reported are involved in the Wnt signalling pathway. Moreover, all variants identified are in European/Caucasian subjects and the variants found in the exonic regions are missense variants. • A comparison of these findings with variants from populations of other regions can be conducted to identify the variants with the most occurrence to act as biomarkers or therapeutic targets for DC.
format Article
author Aissvarya, Shankar
Ling, King-Hwa
Arumugam, Manohar
Thilakavathy, Karuppiah
spellingShingle Aissvarya, Shankar
Ling, King-Hwa
Arumugam, Manohar
Thilakavathy, Karuppiah
Molecular genetics of Dupuytren’s contracture
author_facet Aissvarya, Shankar
Ling, King-Hwa
Arumugam, Manohar
Thilakavathy, Karuppiah
author_sort Aissvarya, Shankar
title Molecular genetics of Dupuytren’s contracture
title_short Molecular genetics of Dupuytren’s contracture
title_full Molecular genetics of Dupuytren’s contracture
title_fullStr Molecular genetics of Dupuytren’s contracture
title_full_unstemmed Molecular genetics of Dupuytren’s contracture
title_sort molecular genetics of dupuytren’s contracture
publisher British Editorial Society of Bone and Joint Surgery
publishDate 2024
url http://psasir.upm.edu.my/id/eprint/113909/1/113909.pdf
http://psasir.upm.edu.my/id/eprint/113909/
https://eor.bioscientifica.com/view/journals/eor/9/8/EOR-23-0056.xml
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score 13.244413

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