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      Ethnic differences in prevalence of Dupuytren disease can partly be explained by known genetic risk variants

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          Abstract

          Dupuytren disease (DD), a fibroproliferative disorder of the palmar fascia that causes flexion contractures in the fingers, is prevalent in people of North-Western European descent and less so in other ethnicities. DD is a complex disorder, influenced by genetic risk variants. We aimed to study if the marked differences in prevalences in DD between ethnic (sub)groups could be explained by differences in allele frequencies of the 26 known genetic risk variants of DD. Therefore, genetic risk scores (GRS) composed of the 26 DD risk variants were calculated for the 26 populations from the 1000 Genomes database and correlated to observed DD prevalences from literature. For comparison, GRSs were generated for 10,000 sets of 26 random SNPs and also correlated to the observed DD prevalences to determine the significance of the observed correlation. To determine whether differences in allele frequencies between ethnicities were caused by natural selection, fixation indices (Fst) were calculated from the 26 SNPs and from the sets of 26 random SNPs for comparison. Observed prevalences could be determined from literature for 10 populations. Their correlation with the GRS composed of DD SNPs proved to be 0.60 ( p = 0.0003). The Fsts between British and other populations were low for European, ad mixed American, and South-Asian populations, and moderate for East-Asians. African populations were significantly different from expected values determined from the random sets. In conclusion, the 26 known genetic risk variants associated with DD explain for a substantial part ( R 2 = 0.36) the differing DD prevalences observed between ethnicities.

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          Wnt signaling and Dupuytren's disease.

          Roel Ophoff, Lude Franke, Guido Dolmans … (2011)
          Dupuytren's disease is a benign fibromatosis of the hands and fingers that leads to flexion contractures. We hypothesized that multiple genetic and environmental factors influence susceptibility to this disease and sought to identify susceptibility genes to better understand its pathogenesis. We conducted a genomewide association study of 960 Dutch persons with Dupuytren's disease and 3117 controls (the discovery set) to test for association between the disease and genetic markers. We tested the 35 single-nucleotide polymorphisms (SNPs) most strongly associated with Dupuytren's disease (P<1×10(-4)) in the discovery set in three additional, independent case series comprising a total of 1365 affected persons and 8445 controls from Germany, the United Kingdom, and The Netherlands. Initially, we observed a significant genomewide association between Dupuytren's disease and 8 SNPs at three loci. Tests of replication and joint analysis of all data from 2325 patients with Dupuytren's disease and 11,562 controls yielded an association with 11 SNPs from nine different loci (P<5.0×10(-8)). Six of these loci contain genes known to be involved in the Wnt-signaling pathway: WNT4 (rs7524102) (P=2.8×10(-9); odds ratio, 1.28), SFRP4 (rs16879765) (P=5.6×10(-39); odds ratio, 1.98), WNT2 (rs4730775) (P=3.0×10(-8); odds ratio, 0.83), RSPO2 (rs611744) (P=7.9×10(-15); odds ratio, 0.75), SULF1 (rs2912522) (P=2.0×10(-13); odds ratio, 0.72), and WNT7B (rs6519955) (P=3.2×10(-33); odds ratio, 1.54). This study implicates nine different loci involved in genetic susceptibility to Dupuytren's disease. The fact that six of these nine loci harbor genes encoding proteins in the Wnt-signaling pathway suggests that aberrations in this pathway are key to the process of fibromatosis in Dupuytren's disease.
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            Epidemiological evaluation of Dupuytren's disease incidence and prevalence rates in relation to etiology.

            Sandip Hindocha, D Angus McGrouther, Ardeshir Bayat (2009)
            Dupuytren's Disease (DD) is a common, fibroproliferative disorder affecting the palmar surface of the hands which is often irreversible and progressive. Understanding the epidemiology of DD is important in order to provide clues to its etiopathogenesis. This review aims to evaluate the epidemiological studies carried out in DD since 1951. Studies evaluating the epidemiology of DD were searched using Medline, Pubmed, and Scopus which dated back from 1951 to current date. Inclusion criteria were any studies investigating the prevalence or incidence of DD in any population group. A total of 620 articles were cited. Forty-nine studies were subsequently identified as relevant to evaluating the epidemiology of DD. The prevalence of DD in all studies increased with age with a male to female ratio of approximately 5.9:1. Prevalence rates ranged from 0.2% to 56% in varying age, population groups, and methods of data collection. The highest prevalence rate was reported in a study group of epileptic patients. Although, only one study calculated the incidence (as opposed to prevalence) of DD to be equal to 34.3 per 100,000 men (0.03%). In conclusion, the prevalence of DD in different geographical locations is extremely variable, and it is not clear whether this is genetic, environmental, or a combination of both. The majority of the prevalence studies have been conducted in Scandinavia or the UK, and the vast changes in population structure, the changes in prevalence of associated diseases, and the change in diagnostic criteria of DD makes understanding the epidemiology of this condition difficult.
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              Epidemiology of Dupuytren's disease: clinical, serological, and social assessment. The Reykjavik Study.

              R Arngrímsson, T Jonsson, N Sigfusson … (2000)
              Dupuytren's disease or palmar fibromatosis is a common disabling hand disorder, mainly confined to Caucasians of northwestern European origin. The prevalence of Dupuytren's disease and possible risk factors related to the disease were evaluated in a random sample of 1297 males and 868 females, aged 46 to 74 years. Blood samples were collected and biochemical parameters were evaluated. The possible relation between the disease and clinical, social, and biochemical parameters were estimated with age-adjusted univariate logistic regression analysis. Altogether 19.2% of the males and 4.4% of the female participants had clinical signs of Dupuytren's disease. The prevalence increased with age, from 7.2% among males in the age group 45-49 years up to 39.5% in those 70-74 years old. The more severe form of the disease, finger contractures, was found in 5.0% of the men and 1.4% had required operation, while this was rarely seen among women. In men elevated fasting blood glucose (P < 0.04), low body weight, and body mass index were significantly correlated with the presence of the disease (P < 0.001). Dupuytren's disease was common among heavy smokers (P = 0.02) and those having manual labor as occupation (P = 0.018). These results show that Dupuytren's disease is common in the Icelandic population and occupation and lifestyle seem to be related to the disease.
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                Author and article information

                Contributors
                Sophie A. Riesmeijer: +0031 50 361 35 31 , s.a.riesmeijer@umcg.nl
                Journal
                Journal ID (nlm-ta): Eur J Hum Genet
                Journal ID (iso-abbrev): Eur. J. Hum. Genet
                Title: European Journal of Human Genetics
                Publisher: Springer International Publishing (Cham )
                ISSN (Print): 1018-4813
                ISSN (Electronic): 1476-5438
                Publication date (Electronic): 30 July 2019
                Publication date PMC-release: 30 July 2019
                Publication date (Print): December 2019
                Volume: 27
                Issue: 12
                Pages: 1876-1884
                Affiliations
                [1 ]ISNI 0000 0000 9558 4598, GRID grid.4494.d, Department of Plastic Surgery, University of Groningen, , University Medical Center Groningen, ; Groningen, The Netherlands
                [2 ]ISNI 0000 0000 9558 4598, GRID grid.4494.d, Department of Epidemiology, University of Groningen, , University Medical Center Groningen, ; Groningen, The Netherlands
                Author information
                http://orcid.org/0000-0001-5047-4077
                Article
                Publisher ID: 483
                DOI: 10.1038/s41431-019-0483-5
                PMC ID: 6871523
                PubMed ID: 31363186
                SO-VID: 0511b512-7609-4f22-b7f1-74eeb4f4fdfc
                Copyright © © The Author(s) 2019
                License:

                Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

                History
                Date received : 17 September 2018
                Date revision received : 9 July 2019
                Date accepted : 16 July 2019
                Categories
                Subject: Article
                Custom metadata
                issue-copyright-statement © European Society of Human Genetics 2019

                ScienceOpen disciplines: Genetics
                Keywords: genetic variation,genetic predisposition to disease
                Data availability:
                ScienceOpen disciplines: Genetics
                Keywords: genetic variation, genetic predisposition to disease

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