Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia.

Several chronic lymphocytic leukaemia (CLL) susceptibility loci have been reported; however, much of the heritable risk remains unidentified. Here we perform a meta-analysis of six genome-wide association studies, imputed using a merged reference panel of 1,000 Genomes and UK10K data, totalling 6,200 cases and 17,598 controls after replication. We identify nine risk loci at 1p36.11 (rs34676223, P=5.04 × 10 ^-13 ), 1q42.13 (rs41271473, P=1.06 × 10 ^-10 ), 4q24 (rs71597109, P=1.37 × 10 ^-10 ), 4q35.1 (rs57214277, P=3.69 × 10 ^-8 ), 6p21.31 (rs3800461, P=1.97 × 10 ^-8 ), 11q23.2 (rs61904987, P=2.64 × 10 ^-11 ), 18q21.1 (rs1036935, P=3.27 × 10 ^-8 ), 19p13.3 (rs7254272, P=4.67 × 10 ^-8 ) and 22q13.33 (rs140522, P=2.70 × 10 ^-9 ). These new and established risk loci map to areas of active chromatin and show an over-representation of transcription factor binding for the key determinants of B-cell development and immune response.
Competing Interests: The authors declare no competing financial interests.