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Gender ratio of Dupuytren's disease in the modern U.S. population.

ABSTRACT: Epidemiological studies conducted largely in northern Europe and Australia have shown that Dupuytren's disease is less common in women, with reported overall male-to-female ratios ranging from 3:1 to 9.5:1. Epidemiological data from other countries cannot be extrapolated to the modern U.S. population due to genetic and environmental differences between populations. The aim of this study was to determine the gender ratio in Dupuytren's disease in the Boston, MA area. We conducted a retrospective study of patients diagnosed with Dupuytren's disease at two large academic hospitals in Boston, MA between the years January 1995 and July 2006. To minimize variability introduced by clinical diagnosis, we also used internal billing records to identify a subset of patients who received fasciectomies for Dupuytren's disease during this period. A total of 1,815 patients (1,150 men, 665 women) were identified at our institutions with a clinical diagnosis of Dupuytren's disease, giving an overall male-to-female ratio of 1.7:1. Of these, 234 patients (176 men, 58 women) received fasciectomies performed by the two senior authors, resulting in a male-to-female ratio of 3.0:1. The male-to-female ratio for patients younger than 54 years of age was 4.0:1, and the ratio approached 1:1 with increasing age. The male-to-female ratio observed in our patient population was lower than those previously reported in the literature, particularly for patients younger than 54 years of age. This study indicates that large-scale epidemiological studies are needed to accurately report Dupuytren's disease in the modern U.S. population.

SUBMITTER: Anthony SG

PROVIDER: S-EPMC2529131 | biostudies-other | 2008 Jun

REPOSITORIES: biostudies-other

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Project description:PURPOSE: Dupuytren's disease (DD) is characterized by fibroblastic proliferation of the palmar fascia, often leading to flexion contracture in the hand. Although there is a strong genetic component the genome-wide expression of novel genes is not known. The purpose of this study was to use DNA microarray technology to identify upregulated genes in DD. METHODS: Human tissue samples were harvested from 3 patient sources: DD cord tissue (n = 20), normal-appearing adjacent control fascia (n = 15), and palmar fascia from patients having carpal tunnel release (n = 15). DNA microarray analysis was performed on amplified sample RNA. Novel genes were compared with known gene functions. A candidate gene of interest was studied further by using immunohistochemistry on DD tissue samples and controls. : Several novel genes not described previously in the study of DD were upregulated significantly, including MafB, collagen type V, alpha-2 (COL5A2), collagen type VIII, alpha-1 (COL8A1), contactin I (CNTN1), and leucine-rich repeat containing 17 (LRRC17). These upregulated genes were compared with their known gene-expression profiles in other tissues and their purported functions. MafB was found to be of particular interest because of its prominent role in tissue development and cellular differentiation. MafB immunohistochemistry showed positive staining in 50% of the DD specimens but complete absence of MafB in all control tissues (adjacent control fascia, carpal tunnel fascia). Co-localization experiments with MafB and alpha-smooth muscle actin showed staining properties in similar regions but these 2 proteins were not confined solely to the same cells. CONCLUSIONS: Microarray analysis of DD tissue has identified significant upregulated gene expression of MafB. MafB protein also is found in Dupuytren's cords but not in control fascia. Co-localization data suggest that the association of MafB with DD is not related exclusively to myofibroblast proliferation. Because of its role in fibroblastic transformation in other models MafB and its relationship to the pathogenesis of DD deserves further study. Set of arrays organized by shared biological context, such as organism, tumors types, processes, etc. Keywords: Logical Set

Project description:Dupuytren's disease (DD) is a classic example of pathological fibrosis which results in a debilitating disorder affecting a large sector of the human population. It is characterized by excessive local proliferation of fibroblasts and over-production of collagen and other components of the extracellular matrix (ECM) in the palmar fascia. The fibrosis progressively results in contracture of elements between the palmar fascia and skin causing flexion deformity or clawing of the fingers and a severe reduction in hand function. While much is known about the pathogenesis and surgical treatment of DD, little is known about the factors that cause its onset and progression, despite many years of research. Gene expression patterns in DD patients now offers the potential to identify genes that direct the pathogenesis of DD. In this study, we used primary cultures of fibroblasts derived from excisional biopsies of fibrotic tissue from DD patients to compare the gene expression profiles on a genome-wide basis with normal control fibroblasts. Our investigations have identified genes that may be involved with DD pathogenesis including some which are directly relevant to fibrosis. In particular, these include significantly reduced expression levels of three matrix metallopeptidases (MMP1, MMP3, MMP16), follistatin, and STAT1, and significantly increased expression levels of fibroblast growth factors (FGF9, FGF11), a number of collagen genes and other ECM genes in DD patient samples. Many of these gene products are known to be involved in fibrosis, tumour formation and in the normal processes of tissue remodelling. In addition, alternative splicing was identified in some DD-associated genes. These highly sensitive genomic investigations provide new insight into the molecular mechanisms that may underpin the development and progression of DD. Four exon arrays of DD primary fibroblasts derived from fibrotic tissue were compared to fibroblasts derived from skin punch biopsies from individuals who did not show DD symptoms.

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Gender ratio of Dupuytren's disease in the modern U.S. population.

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