Genome-Wide High-Resolution Screening in Dupuytren's Disease Reveals Common Regions of DNA Copy Number Alterations

Shih, Barbara; Tassabehji, May; Watson, Jason M.; McGrouther, Angus D.; Bayat, Ardeshir

doi:10.1016/j.jhsa.2010.03.006

Cited by 13 publications

(4 citation statements)

References 52 publications

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“…While no gene copy number variations were found in DD by Kaur et al ,39 increased DNA copy numbers at chromosomes 7p14.1 and 14q11.2 have been reported in DNA extracted from nodules, when compared with DNA from blood of the same patient or external controls 40 41 . Secreted frizzled-related protein (SFRP)4 and MMP14 are found within 450 kB of these copy number alterations, and significantly higher levels of SFRP4 and MMP14 expression were found in DD nodules 40.…”

Section: Correlating Gene Expression With Linkage and Genome-wide Assmentioning

confidence: 83%

“…Several chromosomal regions have been associated with DD from genetic linkage and association studies, including comparative genomic hybridisation,39–41 genome-wide family linkage,42 and case–control whole genome association studies 43 44. Genes within significantly associated loci were compared with the differentially expressed genes reported in the gene expression profiling studies.…”

Section: Correlating Gene Expression With Linkage and Genome-wide Assmentioning

confidence: 99%

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Whole genome and global expression profiling of Dupuytren's disease: systematic review of current findings and future perspectives

2012

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Dupuytren's disease (DD) is a common fibroproliferative disorder affecting the palmar fascia, which may lead to permanent contracture of the affected digit. Profiling studies investigating DD at whole-genomic, transcriptomic and proteomic levels have been carried out, from which large numbers of candidate genes potentially involved in DD have been reported. This review focuses on identifying genes reported by multiple studies or validated by multiple experimental techniques, as well as signalling pathways suggested to contribute to DD. Meta-analysis was also carried out on three microarray datasets. Twenty-one genes were found to be reported as dysregulated in multiple gene expression microarrays, seven of which have been further validated by other experimental methods. Sixty-four genes determined to be dsyregulated by meta-analysis correlate to those reported by published microarray studies. In addition, several pathways have been proposed to be involved in DD by whole-genome or global expression profiling. Further investigation in these genes and pathways, and correlating them to genotypes or environmental factors for DD, may aid in further elucidation of mechanisms involved in DD pathogenesis.

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Section: Correlating Gene Expression With Linkage and Genome-wide Assmentioning

confidence: 83%

Section: Correlating Gene Expression With Linkage and Genome-wide Assmentioning

confidence: 99%

Whole genome and global expression profiling of Dupuytren's disease: systematic review of current findings and future perspectives

2012

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“…[ 10 ] . There are numerous candidate DD susceptibility genes present in these regions, which should be evaluated by next association studies [ 11 ] . Using our institutional register of DD patients we will continue to investigate this issue and, furthermore, the possible association of DD with common malignancies, such as digestive tract cancer, breast cancer and malignant melanoma.…”

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confidence: 99%

Common Variants of the EPDR1 Gene and the Risk of Dupuytren's Disease

Dębniak

Żyluk

Puchalski

et al. 2013

Handchir Mikrochir plast Chir

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The object of this study was the investigation of 3 common variants of single nucleotide polymorphisms of the ependymin-related gene 1 and its association with the occurrence of Dupuytren's disease. DNA samples were obtained from the peripheral blood of 508 consecutive patients. The control group comprised 515 healthy adults who were age-matched with the Dupuytren's patients. 3 common variants were analysed using TaqMan® genotyping assays and sequencing. The differences in the frequencies of variants of single nucleotide polymorphisms in patients and the control group were statistically tested. Additionally, haplotype frequency and linkage disequilibrium were analysed for these variants. A statistically significant association was noted between rs16879765_CT, rs16879765_TT and rs13240429_AA variants and Dupuytren's disease. 2 haplotypes: rs2722280_C+rs13240429_A+rs16879765_C and rs2722280_C+rs13240429_G+rs16879765_T were found to be statistically significantly associated with Dupuytren's disease. Moreover, we found that rs13240429 and rs16879765 variants were in strong linkage disequilibrium, while rs2722280 was only in moderate linkage disequilibrium. No significant differences were found in the frequencies of the variants of the gene between the groups with a positive and negative familial history of Dupuytren's disease. In conclusion, results of this study suggest that EPDR1 gene can be added to a growing list of genes associated with Dupuytren's disease development.

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“…47 propõem a mesma classificação de Luck, baseando-se na relação entre os colágenos tipo III e I. Assim, na fase proliferativa encontramos colágeno tipo III acima de 35%, na involucional entre 20 e 35% e na residual abaixo de 20%. 48 dizem ser incerto se a MD é uma condição monogênica mendeliana ou oligogênica complexa. Outras alterações propostas são mutações genéticas, rearranjo genômico, polimorfismos ou variações do número de cópias.…”

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Influência de polimorfismos genéticos em metaloproteinases na Moléstia de Dupuytren

Rodrigues¹

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Genome-Wide High-Resolution Screening in Dupuytren's Disease Reveals Common Regions of DNA Copy Number Alterations

Cited by 13 publications

References 52 publications

Whole genome and global expression profiling of Dupuytren's disease: systematic review of current findings and future perspectives

Whole genome and global expression profiling of Dupuytren's disease: systematic review of current findings and future perspectives

Common Variants of the EPDR1 Gene and the Risk of Dupuytren's Disease

Influência de polimorfismos genéticos em metaloproteinases na Moléstia de Dupuytren

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