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A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia

Open access
Speedy, Helen E, Di Bernardo, Maria Chiara, Sava, Georgina P, Dyer, Martin J S, Holroyd, Amy, Wang, Yufei, Sunter, Nicola J, Mansouri, Larry, Juliusson, Gunnar, Smedby, Karin E, Roos, Göran, Jayne, Sandrine, Majid, Aneela, Dearden, Claire, Hall, Andrew G, Mainou-Fowler, Tryfonia, Jackson, Graham H, Summerfield, Geoffrey, Harris, Robert J, Pettitt, Andrew R, Allsup, David J, Bailey, James R, Pratt, Guy, Pepper, Chris, Fegan, Chris, Rosenquist, Richard, Catovsky, Daniel, Allan, James M, Houlston, Richard S·2014·Nature Genetics

Abstract

Genome-wide association studies (GWAS) of chronic lymphocytic leukemia (CLL) have shown that common genetic variation contributes to the heritable risk of CLL. To identify additional CLL susceptibility loci, we conducted a GWAS and performed a meta-analysis with a published GWAS totaling 1,739 individuals with CLL (cases) and 5,199 controls with validation in an additional 1,144 cases and 3,151 controls. A combined analysis identified new susceptibility loci mapping to 3q26.2 (rs10936599, P = 1.74 × 10−9), 4q26 (rs6858698, P = 3.07 × 10−9), 6q25.2 (IPCEF1, rs2236256, P = 1.50 × 10−10) and 7q31.33 (POT1, rs17246404, P = 3.40 × 10−8). Additionally, we identified a promising association at 5p15.33 (CLPTM1L, rs31490, P = 1.72 × 10−7) and validated recently reported putative associations at 5p15.33 (TERT, rs10069690, P = 1.12 × 10−10) and 8q22.3 (rs2511714, P = 2.90 × 10−9). These findings provide further insights into the genetic and biological basis of inherited genetic susceptibility to CLL.

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Metadata

Authors
Speedy, H. E., Di Bernardo, M. C., Sava, G. P., Dyer, M. J. S., Holroyd, A., Wang, Y., Sunter, N. J., Mansouri, L., Juliusson, G., Smedby, K. E., Roos, G., Jayne, S., Majid, A., Dearden, C., Hall, A. G., Mainou-Fowler, T., Jackson, G. H., Summerfield, G., Harris, R. J., Pettitt, A. R., Allsup, D. J., Bailey, J. R., Pratt, G., Pepper, C., Fegan, C., Rosenquist, R., Catovsky, D., Allan, J. M., & Houlston, R. S.
Venue
Nature Genetics
Published
2013-12-01
Volume
46
Issue
1
Pages
56-60
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W2028777633
Cited by
187
References
5
FWCI
8.28
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. https://app.cochat.ai/papers/10.1038/ng.2843
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Speedy, H. E., Di Bernardo, M. C., Sava, G. P., Dyer, M. J. S., Holroyd, A., Wang, Y., Sunter, N. J., Mansouri, L., Juliusson, G., Smedby, K. E., Roos, G., Jayne, S., Majid, A., Dearden, C., Hall, A. G., Mainou-Fowler, T., Jackson, G. H., Summerfield, G., Harris, R. J., . . . Houlston, R. S. (2014). A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. Nature Genetics. https://doi.org/10.1038/ng.2843

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