Letter abstract
Nature Genetics 40, 1204 - 1210 (2008)
Published online: 31 August 2008 | doi:10.1038/ng.219
A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia
Maria Chiara Di Bernardo1,15, Dalemari Crowther-Swanepoel1,15, Peter Broderick1,15, Emily Webb1, Gabrielle Sellick1, Ruth Wild1, Kate Sullivan1, Jayaram Vijayakrishnan1, Yufei Wang1, Alan M Pittman1, Nicola J Sunter2, Andrew G Hall2, Martin J S Dyer3, Estella Matutes4, Claire Dearden4, Tryfonia Mainou-Fowler5, Graham H Jackson6, Geoffrey Summerfield7, Robert J Harris8, Andrew R Pettitt8, Peter Hillmen9, David J Allsup10, James R Bailey11, Guy Pratt12, Chris Pepper13, Chris Fegan14, James M Allan2, Daniel Catovsky4 & Richard S Houlston1
We conducted a genome-wide association study of 299,983 tagging SNPs for chronic lymphocytic leukemia (CLL) and performed validation in two additional series totaling 1,529 cases and 3,115 controls. We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2.36 
10-10), 2q37.1 (rs13397985, SP140; P = 5.40 10-10), 6p25.3 (rs872071, IRF4; P = 1.91 10-20), 11q24.1 (rs735665; P = 3.78 10-12), 15q23 (rs7176508; P = 4.54 10-12) and 19q13.32 (rs11083846, PRKD2; P = 3.96 10-9). These data provide the first evidence for the existence of common, low-penetrance susceptibility to a hematological malignancy and new insights into disease causation in CLL.
- Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG. UK.
- Northern Institute for Cancer Research, Paul O'Gorman Building, Newcastle University, Newcastle-upon-Tyne NE2 4HH, UK.
- MRC Toxicology Unit, Leicester University, Leicester LE1 9HN, UK.
- Section of Haemato-oncology, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK.
- Haematological Sciences, Leech Building, The Medical School, Newcastle University, Newcastle-upon-Tyne, UK.
- Department of Haematology, Royal Victoria Infirmary, Newcastle-upon-Tyne NE1 4LP, UK.
- Department of Haematology, Queen Elizabeth Hospital, Gateshead, Newcastle-upon-Tyne NE9 6SX, UK.
- Division of Haematology, University of Liverpool School of Cancer Studies, Liverpool, UK.
- Department of Haematology, Leeds General Infirmary, Leeds LS1 3EX, UK.
- Department of Haematology, Hull Royal Infirmary, Hull HU3 2JZ, UK.
- Hull York Medical School and University of Hull, Hull HU16 5JQ, UK.
- Department of Haematology, Birmingham Heartlands Hospital, Birmingham B9, UK.
- Department of Haematology, School of Medicine, Cardiff University, Cardiff, UK.
- Cardiff and Vale NHS Trust, Heath Park, Cardiff, CF14 4XW, UK.
- These authors contributed equally to this work.
Correspondence to: Richard S Houlston1 e-mail: richard.houlston@icr.ac.uk
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