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

journal contribution
posted on 2023-06-09, 12:41 authored by Helen E Speedy, Maria Chiara Di Bernardo, Georgina P Sava, Martin J S Dyer, Amy Holroyd, Yufei Wang, Nicola J Sunter, Larry Mansouri, Gunnar Juliusson, Karin E Smedby, Göran Roos, Sandrine Jayne, Aneela Majid, Claire Dearden, Andrew G Hall, Tryfonia Mainou-Fowler, Graham H Jackson, Geoffrey Summerfield, Robert J Harris, Andrew R Pettitt, David J Allsup, James R Bailey, Guy Pratt, Christopher PepperChristopher Pepper, Chris Fegan, Richard Rosenquist, Daniel Catovsky, James M Allan, Richard S Houlston
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.

History

Publication status

  • Published

File Version

  • Accepted version

Journal

Nature Genetics

ISSN

1061-4036

Publisher

Nature Publishing Group

Issue

1

Volume

46

Page range

56-60

Department affiliated with

  • Clinical and Experimental Medicine Publications

Research groups affiliated with

  • Haematology Research Group Publications

Full text available

  • Yes

Peer reviewed?

  • Yes

Legacy Posted Date

2018-04-04

First Open Access (FOA) Date

2018-05-02

First Compliant Deposit (FCD) Date

2018-04-04

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