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

Journal of Hand Surgery

Volumn 35, Issue 7, 2010, Pages

  Shih, Barbara B ^a   Tassabehji, May ^a   Watson, James S ^a   McGrouther, Angus D ^a   Bayat, Ardeshir ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

Comparative genomic hybridization; copy number variance; Dupuytren's contracture; Dupuytren's disease; genetics

Indexed keywords

AGED; ARTICLE; CASE REPORT; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DUPUYTREN CONTRACTURE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; MALE; MICROARRAY ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 77954060344     PISSN: 03635023     EISSN: 15316564     Source Type: Journal    
DOI: 10.1016/j.jhsa.2010.03.006     Document Type: Article

References (53)

1. Hu F.Z., Nystrom A., Ahmed A., Palmquist M., Dopico R., Mossberg I., et al. Mapping of an autosomal dominant gene for Dupuytren's contracture to chromosome 16q in a Swedish family. Clin Genet 68 (2005) 424-429
2. Lyall H.A. Dupuytren's disease in identical twins. J Hand Surg 18B (1993) 368-370
3. Bayat A., Watson J.S., Stanley J.K., Ferguson M.W., and Ollier W.E. Genetic susceptibility to Dupuytren disease: association of Zf9 transcription factor gene. Plast Reconstr Surg 111 (2003) 2133-2139
4. Bayat A., Alansar A., Hajeer A.H., Shah M., Watson J.S., Stanley J.K., et al. Genetic susceptibility in Dupuytren's disease: lack of association of a novel transforming growth factor beta(2) polymorphism in Dupuytren's disease. J Hand Surg 27 (2002) 47-49
5. Childs S.G. Dupuytren's disease. Orthop Nurs 24 (2005) 160-163 quiz 164-165
6. Bayat A., Watson J.S., Stanley J.K., Alansari A., Shah M., Ferguson M.W., et al. Genetic susceptibility in Dupuytren's disease. TGF-beta1 polymorphisms and Dupuytren's disease. J Bone Joint Surg 84B (2002) 211-215
7. Hunter T., Shanahan Jr. W.R., Robertson G.A., Stranc M.F., and Schroeder M.L. The distribution of histocompatibility antigens in patients with Dupuytren's contracture. Arthritis Rheum 24 (1981) 1218-1219
8. Hunter T., Shanahan Jr. W.R., Robertson G.A., Stranc M.F., and Schroeder M.L. No gene copy number changes in Dupuytren's contracture by array comparative genomic hybridization. Cancer Genet Cytogenet 183 (2008) 6-8
9. Brown J.J., Ollier W., Thomson W., and Bayat A. Positive association of HLA-DRB1*15 with Dupuytren's disease in Caucasians. Tissue Antigens 72 (2008) 166-170
10. Spencer J.D., and Walsh K.I. Histocompatibility antigen patterns in Dupuytren's contracture. J Hand Surg 9B (1984) 276-278
11. Scherer S.W., Lee C., Birney E., Altshuler D.M., Eichler E.E., Carter N.P., et al. Challenges and standards in integrating surveys of structural variation. Nat Genet 39 (2007) S7-S15
12. Iafrate A.J., Feuk L., Rivera M.N., Listewnik M.L., Donahoe P.K., Qi Y., et al. Detection of large-scale variation in the human genome. Nat Genet 36 (2004) 949-951
13. Jakobsson M., Scholz S.W., Scheet P., Gibbs J.R., VanLiere J.M., Fung H.C., et al. Genotype, haplotype and copy-number variation in worldwide human populations. Nature 451 (2008) 998-1003
14. Henrichsen C.N., Vinckenbosch N., Zollner S., Chaignat E., Pradervand S., Schutz F., et al. Segmental copy number variation shapes tissue transcriptomes. Nat Genet 41 (2009) 424-429
15. Henrichsen C.N., Chaignat E., and Reymond A. Copy number variants, diseases and gene expression. Hum Mol Genet 18 (2009) R1-R8
16. Eichler E.E., Nickerson D.A., Altshuler D., Bowcock A.M., Brooks L.D., Carter N.P., et al. Completing the map of human genetic variation. Nature 447 (2007) 161-165
17. Guryev V., Saar K., Adamovic T., Verheul M., van Heesch S.A., Cook S., et al. Distribution and functional impact of DNA copy number variation in the rat. Nat Genet 40 (2008) 538-545
18. Merla G., Howald C., Henrichsen C.N., Lyle R., Wyss C., Zabot M.T., et al. Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am J Hum Genet 79 (2006) 332-341
19. Bonnici A.V., Birjandi F., Spencer J.D., Fox S.P., and Berry A.C. Chromosomal abnormalities in Dupuytren's contracture and carpal tunnel syndrome. J Hand Surg 17B (1992) 349-355
20. Dal Cin P., De Smet L., Sciot R., Van Damme B., and Van den Berghe H. Trisomy 7 and trisomy 8 in dividing and non-dividing tumor cells in Dupuytren's disease. Cancer Genet Cytogenet 108 (1999) 137-140
21. Wurster-Hill D.H., Brown F., Park J.P., and Gibson S.H. Cytogenetic studies in Dupuytren contracture. Am J Hum Genet 43 (1988) 285-292
22. Kaur S., Forsman M., Ryhanen J., Knuutila S., and Larramendy M.L. No gene copy number changes in Dupuytren's contracture by array comparative genomic hybridization. Cancer Genet Cytogenet 183 (2008) 6-8
23. Rehman S., Salway F., Stanley J.K., Ollier W.E., Day P., and Bayat A. Molecular phenotypic descriptors of Dupuytren's disease defined using informatics analysis of the transcriptome. J Hand Surg 33A (2008) 359-372
24. Fellermann K., Stange D.E., Schaeffeler E., Schmalzl H., Wehkamp J., Bevins C.L., et al. A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am J Hum Genet 79 (2006) 439-448
25. Shih B., Wijeratne D., Armstrong D.J., Lindau T., Day P., and Bayat A. Identification of biomarkers in Dupuytren's disease by comparative analysis of fibroblasts versus tissue biopsies in disease-specific phenotypes. J Hand Surg 34A (2009) 124-136
26. Ballif B.C., Hornor S.A., Jenkins E., Madan-Khetarpal S., Surti U., Jackson K.E., et al. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet 39 (2007) 1071-1073
27. Chen Y.C., Giovannucci E., Kraft P., and J Hunter D. Sequence variants of elaC homolog 2 (Escherichia coli) (ELAC2) gene and susceptibility to prostate cancer in the Health Professionals Follow-Up Study. Carcinogenesis 29 (2008) 999-1004
28. Johnston P., Larson D., Clark I.M., and Chojnowski A.J. Metalloproteinase gene expression correlates with clinical outcome in Dupuytren's disease. J Hand Surg 33A (2008) 1160-1167
29. Ulrich D., Ulrich F., Piatkowski A., and Pallua N. Expression of matrix metalloproteinases and their inhibitors in cords and nodules of patients with Dupuytren's disease. Arch Orthop Trauma Surg 129 (2009) 1453-1459
30. Redon R., Ishikawa S., Fitch K.R., Feuk L., and Perry G.H. Global variation in copy number in the human genome. Nature 444 (2006) 444-454
31. Nakajima T., Kaur G., Mehra N., and Kimura A. HIV-1/AIDS susceptibility and copy number variation in CCL3L1, a gene encoding a natural ligand for HIV-1 co-receptor CCR5. Cytogenet Genome Res 123 (2008) 156-160
32. Yang Y., Chung E.K., Wu Y.L., Savelli S.L., Nagaraja H.N., Zhou B., et al. Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans. Am J Hum Genet 80 (2007) 1037-1054
33. Andre F., Job B., Dessen P., Tordai A., Michiels S., Liedtke C., et al. Molecular characterization of breast cancer with high-resolution oligonucleotide comparative genomic hybridization array. Clin Cancer Res 15 (2009) 441-451
34. Molina J., Carmona-Mora P., Chrast J., Krall P.M., Canales C.P., Lupski J.R., et al. Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome. Hum Mol Genet 17 (2008) 2486-2495
35. Kuhl A., Melberg A., Meinl E., Nurnberg G., Nurnberg P., Kehrer-Sawatzki H., et al. Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. Eur J Hum Genet 16 (2008) 367-373
36. Forsman M., Paakkonen V., Tjaderhane L., Vuoristo J., Kallioinen L., Salo T., et al. The expression of myoglobin and ROR2 protein in Dupuytren's disease. J Surg Res 146 (2008) 271-275
37. Inoue J., Gohda J., Akiyama T., and Semba K. NF-kappaB activation in development and progression of cancer. Cancer Sci 98 (2007) 268-274
38. Wilbrand S., Ekbom A., and Gerdin B. Cancer incidence in patients treated surgically for Dupuytren's contracture. J Hand Surg 25B (2000) 283-287
39. Gudmundsson K.G., Arngrimsson R., Sigfusson N., and Jonsson T. Increased total mortality and cancer mortality in men with Dupuytren's disease: a 15-year follow-up study. J Clin Epidemiol 55 (2002) 5-10
40. Sergovich F.R., Botz J.S., and McFarlane R.M. Nonrandom cytogenetic abnormalities in Dupuytren's disease. N Engl J Med 308 (1983) 162-163
41. Bowser-Riley S., Bain A.D., Noble J., and Lamb D.W. Chromosome abnormalities in Dupuytren's disease. Lancet 2 (1975) 1282-1283
42. Casalone R., Mazzola D., Meroni E., Righi R., Minelli E., Granata P., et al. Cytogenetic and interphase cytogenetic analyses reveal chromosome instability but no clonal trisomy 8 in Dupuytren contracture. Cancer Genet Cytogenet 99 (1997) 73-76
43. Gudmundsson K.G., Arngrimsson R., Arinbjarnarson S., Olafsson A., and Jonsson T. T- and B-lymphocyte subsets in patients with Dupuytren's disease. Correlations with disease severity. J Hand Surg 23B (1998) 724-727
44. Badalamente M.A., Sampson S.P., Hurst L.C., Dowd A., and Miyasaka K. The role of transforming growth factor beta in Dupuytren's disease. J Hand Surg 21A (1996) 210-215
45. Jemec B., Grobbelaar A.O., Wilson G.D., Smith P.J., Sanders R., and McGrouther D.A. Is Dupuytren's disease caused by an imbalance between proliferation and cell death?. J Hand Surg 24B (1999) 511-514
46. Ulrich D., Hrynyschyn K., and Pallua N. Matrix metalloproteinases and tissue inhibitors of metalloproteinases in sera and tissue of patients with Dupuytren's disease. Plast Reconstr Surg 112 (2003) 1279-1286
47. Epel M., Carmi I., Soueid-Baumgarten S., Oh S.K., Bera T., Pastan I., et al. Targeting TARP, a novel breast and prostate tumor-associated antigen, with T cell receptor-like human recombinant antibodies. Eur J Immunol 38 (2008) 1706-1720
48. Kobayashi H., Nagato T., Oikawa K., Sato K., Kimura S., Aoki N., et al. Recognition of prostate and breast tumor cells by helper T lymphocytes specific for a prostate and breast tumor-associated antigen, TARP. Clin Cancer Res 11 (2005) 3869-3878
49. Chandramouli A., Shi J., Feng Y., Holubec H., Shanas R.M., Bhattacharyya A.K., et al. Haploinsufficiency of the cdc2l gene contributes to skin cancer development in mice. Carcinogenesis 28 (2007) 2028-2035
50. Spencer K.L., Hauser M.A., Olson L.M., Schmidt S., Scott W.K., Gallins P., et al. Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. Hum Mol Genet 17 (2008) 971-977
51. Dragon-Durey M.A., Blanc C., Marliot F., Loirat C., Blouin J., Sautes-Fridman C., et al. The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome. Journal of Medical Genetics 46 (2009) 447-450
52. Liu Y., Soto I., Tong Q., Chin A., Bühring H.J., Wu T., et al. SIRPβ1 is expressed as a disulfide-linked homodimer in leukocytes and positively regulates neutrophil transepithelial migration. J Biol Chem 280 (2005) 36132-36140
53. van Beek E.M., Cochrane F., Barclay A.N., and van den Berg T.K. Signal regulatory proteins in the immune system. J Immunol 175 (2005) 7781-7787