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Nature Research, Nature Communications, 1(7), 2016

DOI: 10.1038/ncomms10933

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Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia

Journal article published in 2016 by Sonja I. Berndt, A. Sonja I. Berndt, † and Susan L. Slager and Susan L. Slager, * Nicola J. Camp Nicola J. Camp, *. Joseph Vijai, Nicola J. Camp, *. Zhaoming Wang, Christine F. Skibola, *. Jian Gu, Joseph Vijai ORCID, 8. Rachel S. Kelly Rachel S. Kelly, Zhaoming Wang, 10 Karin E. Smedby Karin E. Smedby, Jian Gu, 14 Wendy Cozen and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

AbstractChronic lymphocytic leukemia (CLL) is a common lymphoid malignancy with strong heritability. To further understand the genetic susceptibility for CLL and identify common loci associated with risk, we conducted a meta-analysis of four genome-wide association studies (GWAS) composed of 3,100 cases and 7,667 controls with follow-up replication in 1,958 cases and 5,530 controls. Here we report three new loci at 3p24.1 (rs9880772, EOMES, P=2.55 × 10−11), 6p25.2 (rs73718779, SERPINB6, P=1.97 × 10−8) and 3q28 (rs9815073, LPP, P=3.62 × 10−8), as well as a new independent SNP at the known 2q13 locus (rs9308731, BCL2L11, P=1.00 × 10−11) in the combined analysis. We find suggestive evidence (P<5 × 10−7) for two additional new loci at 4q24 (rs10028805, BANK1, P=7.19 × 10−8) and 3p22.2 (rs1274963, CSRNP1, P=2.12 × 10−7). Pathway analyses of new and known CLL loci consistently show a strong role for apoptosis, providing further evidence for the importance of this biological pathway in CLL susceptibility.