Fine-scale mapping of the 6p25.3 chronic lymphocytic leukaemia susceptibility locus

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.

Authors:		Crowther-Swanepoel, Dalemari; Broderick, Peter; Ma, Yussanne; Robertson, Lindsay; Pittman, Alan M.; Price, Amy; Twiss, Philip; Vijayakrishnan, Jayaram; Qureshi, Mobshra; Dyer, Martin J. S.; Matutes, Estella; Dearden, Claire; Catovsky, Daniel; Houlston, Richard S.
Journal:		Human Molecular Genetics
Volume:		19
Issue:		9
Year:		2010
Pages:		1840
DOI:		10.1093/hmg/ddq044
Publication date:		01-05-2010

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