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


MeSH Major

  • European Continental Ancestry Group
  • Genome-Wide Association Study
  • Leukemia, Lymphocytic, Chronic, B-Cell


  • Chronic 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.


publication date

  • March 9, 2016



  • Review



  • eng

PubMed Central ID

  • PMC4786871

Digital Object Identifier (DOI)

  • 10.1038/ncomms10933

PubMed ID

  • 26956414

Additional Document Info

start page

  • 10933


  • 7