Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia.
meta_analysis · Level I
Where this comes from
- Record sourced from PubMed, PMID 28165464.
- Also identified by DOI 10.1038/ncomms14175 and PMC identifier 5303820.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
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<sup>-13</sup>), 1q42.13 (rs41271473, P=1.06 × 10<sup>-10</sup>), 4q24 (rs71597109, P=1.37 × 10<sup>-10</sup>), 4q35.1 (rs57214277, P=3.69 × 10<sup>-8</sup>), 6p21.31 (rs3800461, P=1.97 × 10<sup>-8</sup>), 11q23.2 (rs61904987, P=2.64 × 10<sup>-11</sup>), 18q21.1 (rs1036935, P=3.27 × 10<sup>-8</sup>), 19p13.3 (rs7254272, P=4.67 × 10<sup>-8</sup>) and 22q13.33 (rs140522, P=2.70 × 10<sup>-9</sup>). 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.
Medical subject headings
- Antibody Formation
- Chromosomes, Human
- Genetic Predisposition to Disease
- Leukemia, Lymphocytic, Chronic, B-Cell