Journal
HUMAN MOLECULAR GENETICS
Volume 19, Issue 9, Pages 1840-1845Publisher
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddq044
Keywords
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Funding
- Institute of Cancer Research
- Leukaemia Research Fund [LRF05001, LRF06002]
- Cancer Research UK [C1298/A8362]
- MRC [MC_U132670597] Funding Source: UKRI
- Medical Research Council [MC_U132670597] Funding Source: researchfish
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A recent genome-wide association study of chronic lymphocytic leukaemia (CLL) has identified a susceptibility locus on 6p25.3 associated with a modest but highly significant increase in CLL risk. Using a set of single nucleotide polymorphism (SNP) markers, we generated a fine-scale map and narrowed the association signal to a 18 kb DNA segment within the 3'-untranslated region (UTR) of the IRF4 (interferon regulatory factor 4) gene. Resequencing this segment in European subjects identified 55 common polymorphisms, including 13 highly correlated candidate causal variants. In a large case-control study, it was shown that all but four variants could be excluded with 95% confidence. These four SNPs map to a 3 kb region of the 3'-UTR of IRF4, consistent with the causal basis of the association being mediated through differential IRF4 expression.
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