The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.

作者: Niels Weinhold , David C Johnson , Daniel Chubb , Bowang Chen , Asta Försti

DOI: 10.1038/NG.2583

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摘要: A number of specific chromosomal abnormalities define the subgroups multiple myeloma. In a meta-analysis two genome-wide association studies myeloma including total 1,661 affected individuals, we investigated risk for developing tumor karyotype. The t(11;14)(q13;q32) translocation in which CCND1 is placed under control immunoglobulin heavy chain enhancer was strongly associated with c.870G>A polymorphism (P = 7.96 x 10(-11)). These results provide model constitutive genetic factor translocation.

参考文章(35)
K E Knudsen, J Alan Diehl, C A Haiman, E S Knudsen, Cyclin D1: polymorphism, aberrant splicing and cancer risk Oncogene. ,vol. 25, pp. 1620- 1628 ,(2006) , 10.1038/SJ.ONC.1209371
W.J. Chng, O. Glebov, P.L. Bergsagel, W.M. Kuehl, Genetic events in the pathogenesis of multiple myeloma. Best Practice & Research Clinical Haematology. ,vol. 20, pp. 571- 596 ,(2007) , 10.1016/J.BEHA.2007.08.004
Axel Schmermund, Stefan Möhlenkamp, Andreas Stang, Dietrich Grönemeyer, Rainer Seibel, Herbert Hirche, Klaus Mann, Winfried Siffert, Karl Lauterbach, Johannes Siegrist, Karl-Heinz Jöckel, Raimund Erbel, Heinz Nixdorf Recall Study Investigative Group, Assessment of clinically silent atherosclerotic disease and established and novel risk factors for predicting myocardial infarction and cardiac death in healthy middle-aged subjects: Rationale and design of the Heinz Nixdorf RECALL Study American Heart Journal. ,vol. 144, pp. 212- 218 ,(2002) , 10.1067/MHJ.2002.123579
Simon Myers, Leonardo Bottolo, Colin Freeman, Gil McVean, Peter Donnelly, A Fine-Scale Map of Recombination Rates and Hotspots Across the Human Genome Science. ,vol. 310, pp. 321- 324 ,(2005) , 10.1126/SCIENCE.1117196
Jeffrey R. Sawyer, The prognostic significance of cytogenetics and molecular profiling in multiple myeloma. Cancer Genetics and Cytogenetics. ,vol. 204, pp. 3- 12 ,(2011) , 10.1016/J.CANCERGENCYTO.2010.11.002
Peter Broderick, Daniel Chubb, David C Johnson, Niels Weinhold, Asta Försti, Amy Lloyd, Bianca Olver, Yussanne P Ma, Sara E Dobbins, Brian A Walker, Faith E Davies, Walter A Gregory, J Anthony Child, Fiona M Ross, Graham H Jackson, Kai Neben, Anna Jauch, Per Hoffmann, Thomas W Mühleisen, Markus M Nöthen, Susanne Moebus, Ian P Tomlinson, Hartmut Goldschmidt, Kari Hemminki, Gareth J Morgan, Richard S Houlston, Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk Nature Genetics. ,vol. 44, pp. 58- 61 ,(2012) , 10.1038/NG.993
K. Neben, A. Jauch, U. Bertsch, C. Heiss, T. Hielscher, A. Seckinger, T. Mors, N. Z. Muller, J. Hillengass, M. S. Raab, A. D. Ho, D. Hose, H. Goldschmidt, Combining information regarding chromosomal aberrations t(4;14) and del(17p13) with the International Staging System classification allows stratification of myeloma patients undergoing autologous stem cell transplantation Haematologica. ,vol. 95, pp. 1150- 1157 ,(2010) , 10.3324/HAEMATOL.2009.016436
B. E. Stranger, M. S. Forrest, M. Dunning, C. E. Ingle, C. Beazley, N. Thorne, R. Redon, C. P. Bird, A. de Grassi, C. Lee, C. Tyler-Smith, N. Carter, S. W. Scherer, S. Tavare, P. Deloukas, M. E. Hurles, E. T. Dermitzakis, Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes Science. ,vol. 315, pp. 848- 853 ,(2007) , 10.1126/SCIENCE.1136678
Samsiddhi Bhattacharjee, Preetha Rajaraman, Kevin B. Jacobs, William A. Wheeler, Beatrice S. Melin, Patricia Hartge, Meredith Yeager, Charles C. Chung, Stephen J. Chanock, Nilanjan Chatterjee, A subset-based approach improves power and interpretation for the combined analysis of genetic association studies of heterogeneous traits. American Journal of Human Genetics. ,vol. 90, pp. 821- 835 ,(2012) , 10.1016/J.AJHG.2012.03.015
Carl A Anderson, Fredrik H Pettersson, Geraldine M Clarke, Lon R Cardon, Andrew P Morris, Krina T Zondervan, None, Data quality control in genetic case-control association studies Nature Protocols. ,vol. 5, pp. 1564- 1573 ,(2010) , 10.1038/NPROT.2010.116