Dupuytren Literature: DNA

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Medline Title Search (Dupuytren + (DNA or Genetic or Genomic))

Dupuytren disease has a strong genetic component. The truth is hidden in DNA.

Selected Publications

GWAS / TWAS / Gene variants

• Becker K, Du J, Nürnberg P, Hennies HC. Network Analysis and FineMapping GWAS Loci to Identify Genes and Functional Variants Involved in the Development of Dupuytren Disease. In: Werker P, Dias J, Eaton C, Reichert B, Wach W, eds. Dupuytren Disease and Related Diseases – The Cutting Edge. ; 2017:105-111. doi:10.1007/978-3-319-32199-8 (PDF)
• Dagneaux L, Owen AR, Bettencourt JW, Barlow JD, Amadio PC, Kocher JP, et al. Human Fibrosis: Is There Evidence for a Genetic Predisposition in Musculoskeletal Tissues? J Arthroplasty. 2020;35(11):3343-52. (PDF)
• Debniak T, Zyluk A, Puchalski P, Serrano-Fernandez P. Common variants of the EPDR1 gene and the risk of Dupuytren’s disease. Handchirurgie Mikrochirurgie Plast Chir. 2013;45(5):253–7. (PDF)
• Dolmans GH, de Bock GH, Werker PM. Dupuytren diathesis and genetic risk. J Hand Surg Am. 2012; 37 ( 10 ):211–2106. (PDF)
• Dolmans GH, Werker PM, Hennies HC, et al. Wnt signaling and Dupuytren’s disease. N Engl J Med. 2011;365(4):307-317. doi:10.1056/NEJMoa1101029 (PDF)
• Dolmans GH, Werker PM, Hennies HC, et al. Supplementary Appendix: Wnt signaling and Dupuytren’s disease. N Engl J Med. 2011;365(4):307-317. doi:10.1056/NEJMoa1101029 (PDF)
• Dolmans GHCG. Doctoral Thesis: Genetic Origin of Dupuytren’s Disease and Associated Fibromatosis. 2014:1-129. (PDF)
• Hindocha S. Doctoral Thesis: Identification of biomarkers and whole genome scanning in Dupuytren’s Disease. A thesis submitted to the University of Manchester for the degree of Doctor of Medicine in the Faculty of Medical & Human Sciences. 2013. (PDF)
• Ji X, Tian F, Tian L. Identification and function analysis of contrary genes in Dupuytren’s contracture. Mol Med Rep. 2015;482–8. (PDF)
• Major M, Freund MK, Burch KS, et al. Integrative analysis of Dupuytren’s disease identifies novel risk locus and reveals a shared genetic etiology with BMI. Genet Epidemiol. 2019;43(6):629-645. doi:10.1002/gepi.22209 (PDF)
• Ng, M., Thakkar, D., Southam, L., Werker, P., Ophoff, R., Becker, K., … Furniss, D. (2017). A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis. The American Journal of Human Genetics, 101(3), 417–427. http://doi.org/10.1016/j.ajhg.2017.08.006 (PDF)
• Riesmeijer SA, Werker PMN, Nolte IM. Ethnic differences in prevalence of Dupuytren disease can partly be explained by known genetic risk variants. Eur J Hum Genet. 2019. doi:10.1038/s41431-019-0483-5 (PDF)
• Shih B, Watson S, Bayat A. Whole genome and global expression profiling of Dupuytren’s disease: systematic review of current findings and future perspectives. Ann Rheum Dis. 2012/07/10 ed. 2012;71(9):1440-1447. (PDF)
• Shih BB, Tassabehji M, Watson JS, McGrouther AD, Bayat A. Genome-wide high-resolution screening in Dupuytren’s disease reveals common regions of DNA copy number alterations. J Hand Surg Am. 2010; 35 ( 7 ): 1172–83 e7. (PDF)
• Ten Dam E-JPM, van Beuge MM, Bank RA, Werker PMN. Further evidence of the involvement of the Wnt signaling pathway in Dupuytren’s disease. J Cell Commun Signal. 2016;10(1):33-40. doi:10.1007/s12079-015-0312-8 (PDF)

Sporadic

• Anderson ER, Burmester JK, Caldwell MD. Evaluation of a mitochondrial DNA mutation in maternally inherited and sporadic cases of Dupuytren disease. Clin Med Res. 2012; 10 ( 3 ):16–122. (PDF)

Epidemiology / Genetic Risk

• Becker K, Tinschert S, Lienert A., Bleuler PE, Staub F, Meinel A., et al. The importance of genetic susceptibility in Dupuytren’s disease. Clin Genet. 2014;1–5. (PDF)
• Capstick R, Bragg T, Giele H, Furniss D. Sibling recurrence risk in Dupuytren’s disease . J Hand Surg Eur Vol . 2013;38(4):49-424. doi:10.1177/1753193412453359 (PDF)
• Kuo RYL, Ng M, Prieto-Alhambra D, Furniss D. Dupuytren’s disease predicts increased all-cause and cancer-specific mortality: analysis of a large cohort from the UK Clinical Practice Research Datalink. Plast Reconstr Surg. December 2019. doi:10.1097/PRS.0000000000006551 (PDF)
• Larsen S, Krogsgaard DG, Larsen LA, Iachina M, Skytthe A, Frederiksen H. Genetic and environmental influences in Dupuytren’s disease: A study of 30,330 Danish twin pairs. J Hand Surg Eur Vol. 2015;2014–5. (PDF)
• Ng M, Lawson DJ, Winney B, Furniss D. Is Dupuytren’s disease really a “disease of the Vikings”? J Hand Surg Eur Vol. October 2019:1753193419882851. doi:10.1177/1753193419882851 (PDF)

Cell culture / Transcriptome

• Bujak M, Ratkaj I, Markova-Car E, Jurišic D, Horvatic A, Vucinic S, et al. Inflammatory Gene Expression Upon TGF-ß1-Induced p38 Activation in Primary Dupuytren’s Disease Fibroblasts. Front Mol Biosci. 2015;2(December):1–9. (PDF)
• Jung J, Kim GW, Lee B, Joo JWJ, Jang W. Integrative genomic and transcriptomic analysis of genetic markers in Dupuytren’s disease. 2019;12(Suppl 5):1-10. (PDF)
• Liu H, Yin W, Liu B, Liu Y, Guo B, Wei Z. Screening of candidate genes in fibroblasts derived from patients with Dupuytren’s contracture using bioinformatics analysis. Rheumatol Int. Springer Berlin Heidelberg; 2015;35(8):1343–50. (PDF)

Raw Data / Big Data Approaches

• Pan D, Watson HK, Swigart C, Thomson JG, Honig SC, Narayan D. Microarray gene analysis and expression profiles of Dupuytren’s contracture. Ann Plast Surg. 2003;50(6):618-22. (PDF)
• Rehman S, Salway F, Stanley JK, Ollier WE, Day P, Bayat A. Molecular phenotypic descriptors of Dupuytren’s disease defined using informatics analysis of the transcriptome. J Hand Surg Am. 2008;33(3):359-72. (PDF)
• Satish L, LaFramboise WA, O’Gorman DB, Johnson S, Janto B, Gan BS, et al. Identification of differentially expressed genes in fibroblasts derived from patients with Dupuytren’s Contracture. BMC Med Genomics. 2008;1:10. (PDF)
• Shih B, Wijeratne D, Armstrong DJ, Lindau T, Day P, Bayat A. Identification of biomarkers in Dupuytren’s disease by comparative analysis of fibroblasts versus tissue biopsies in disease-specific phenotypes. J Hand Surg Am. 2009;34(1):124-36. (PDF)
• Mosakhani N, Guled M, Lahti L, Borze I, Forsman M, Paakkonen V, et al. Unique microRNA profile in Dupuytren’s contracture supports deregulation of beta-catenin pathway. Mod Pathol. 2010;23(11):1544-52. (PDF)
• Dolmans GH, Werker PM, Hennies HC, Furniss D, Festen EA, Franke L, et al. Wnt signaling and Dupuytren’s disease. N Engl J Med. 2011;365(4):307-17. (PDF)
• Dolmans GH, Werker PM, Hennies HC, Furniss D, Festen EA, Franke L, et al. Supplement to Wnt signaling and Dupuytren’s disease. N Engl J Med. 2011;365(4):307-17. (PDF)
• Rehman S. A Systems Approach to Understanding Dupuytren’s Disease. Manchester: The University of Manchester; 2011. (PDF)
• Becker K. Molecular Genetics of Dupuytren´s Disease. Köln: Universität zu Köln; 2012. (PDF)
• Satish L, LaFramboise WA, Johnson S, Vi L, Njarlangattil A, Raykha C, et al. Fibroblasts from phenotypically normal palmar fascia exhibit molecular profiles highly similar to fibroblasts from active disease in Dupuytren’s Contracture. BMC Med Genomics. 2012;5:15. (PDF)
• Shih B, Watson S, Bayat A. Whole genome and global expression profiling of Dupuytren’s disease: systematic review of current findings and future perspectives. Ann Rheum Dis. 2012;71(9):1440-7. (PDF)
• Shih B, Watson S, Bayat A. Supplement to Whole genome and global expression profiling of Dupuytren’s disease: systematic review of current findings and future perspectives. Ann Rheum Dis. 2012;71(9):1440-7. (PDF)
• Forrester HB, Temple-Smith P, Ham S, de Kretser D, Southwick G, Sprung CN. Genome-wide analysis using exon arrays demonstrates an important role for expression of extra-cellular matrix, fibrotic control and tissue remodelling genes in Dupuytren’s disease. PLoS One. 2013;8(3):e59056. (PDF)
• Hindocha S. Identification of biomarkers and whole genome scanning in Dupuytren’s Disease: University of Manchester; 2013. (PDF)
• Anderson ER, Ye Z, Caldwell MD, Burmester JK. SNPs previously associated with Dupuytren’s disease replicated in a North American cohort. Clin Med Res. 2014;12(3-4):133-7. (PDF)
• Dolmans GH. Genetic Origin of Dupuytren’s Disease and Associated Fibromatosis: University of Groningen; 2014. (PDF)
• Riester SM, Arsoy D, Camilleri ET, Dudakovic A, Paradise CR, Evans JM, et al. RNA sequencing reveals a depletion of collagen targeting microRNAs in Dupuytren’s disease. BMC Med Genomics. 2015;8:59. (PDF)
• Becker K, Siegert S, Toliat MR, Du J, Casper R, Dolmans GH, et al. Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren’s Disease. PLoS One. 2016;11(7):e0158101. (PDF)
• Forsman M. Histological Characteristics and Gene Expression Profiling of Dupuytren’s Disease [Doctoral]. Oulu: University of Oulu; 2016. (PDF)
• Mayerl C, Del Frari B, Parson W, Boeck G, Piza-Katzer H, Wick G, et al. Characterisation of the inflammatory response in Dupuytren’s disease. J Plast Surg Hand Surg. 2016;50(3):171-9. (PDF)
• Becker K, Du J, Nürnberg P, Hennies HC. Network Analysis and Fine-Mapping GWAS Loci to Identify Genes and Functional Variants Involved in the Development of Dupuytren Disease. Dupuytren Disease and Related Diseases – The Cutting Edge 2017. p. 105-11. (PDF)
• Ng M, Thakkar D, Southam L, Werker P, Ophoff R, Becker K, et al. A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis. Am J Hum Genet. 2017;101(3):417-27. (PDF)
• Ng M, Thakkar D, Southam L, Werker P, Ophoff R, Becker K, et al. Supplement to A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis. Am J Hum Genet. 2017;101(3):417-27. (PDF)
• Jung J, Kim GW, Lee B, Joo JWJ, Jang W. Integrative genomic and transcriptomic analysis of genetic markers in Dupuytren’s disease. BMC Med Genomics. 2019;12(Suppl 5):98. (PDF)
• Riesmeijer SA, Werker PMN, Nolte IM. Ethnic differences in prevalence of Dupuytren disease can partly be explained by known genetic risk variants. Eur J Hum Genet. 2019;27(12):1876-84. (PDF)
• Riesmeijer SA, Werker PMN, Nolte IM. Ethnic differences in prevalence of Dupuytren disease can partly be explained by known genetic risk variants. Eur J Hum Genet. 2019;27(12):1876-84. (PDF)
• Major M, Freund MK, Burch KS, Mancuso N, Ng M, Furniss D, et al. Integrative analysis of Dupuytren’s disease identifies novel risk locus and reveals a shared genetic etiology with BMI. Genet Epidemiol. 2019;43(6):629-45. (PDF)
• Park TH, Kim D, Lee YS, Kim SY. A meta-analysis to identify novel diagnostic and therapeutic targets for Dupuytren’s disease. Wound Repair Regen. 2020;28(2):202-10. (PDF)
• Dagneaux L, Owen AR, Bettencourt JW, Barlow JD, Amadio PC, Kocher JP, et al. Human Fibrosis: Is There Evidence for a Genetic Predisposition in Musculoskeletal Tissues? J Arthroplasty. 2020;35(11):3343-52. (PDF)
• Luo J. AWT1 is Constantly Expressed in Palmar Fascia Fibrosis and Promotes a Pro-Inflammatory Milieu: The University of Western Ontario; 2020. (PDF)
• Williams LM, McCann FE, Cabrita MA, Layton T, Cribbs A, Knezevic B, et al. Identifying collagen VI as a target of fibrotic diseases regulated by CREBBP/EP300. Proc Natl Acad Sci U S A. 2020;117(34):20753-63. (PDF)
• Williams LM, McCann FE, Cabrita MA, Layton T, Cribbs A, Knezevic B, et al. Supplement to Identifying collagen VI as a target of fibrotic diseases regulated by CREBBP/EP300. Proc Natl Acad Sci U S A. 2020;117(34):20753-63. (PDF)
• Karatzas E, Kakouri AC, Kolios G, Delis A, Spyrou GM. Fibrotic expression profile analysis reveals repurposed drugs with potential anti-fibrotic mode of action. PLoS One. 2021;16(4):e0249687. (PDF)

…and disputes

• Ojwang JO, Adrianto I, Gray-McGuire C, Nath SK, Sun C, Kaufman KM, et al. Genome-wide association scan of Dupuytren’s disease. J Hand Surg Am. 2011/04/06 ed. 2010 Dec;35(12):2039–45. (PDF)
• Furniss D, Dolmans GH, Hennies HC. Genome-wide association scan of Dupuytren’s disease. J Hand Surg Am. 2011/04/06 ed. 2011;36(4):755–6; author reply 756. (PDF)