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By conducting genome-wide association studies (GWAS) we have identified susceptibility loci for multiple myeloma (MM) annotated by common tagging single nucleotide polymorphisms (SNPs). Investigating a functional basis of these associations provides insight into the genes influencing MM development. We hypothesise that the linkage disequilibrium (LD) blocks to which these risk SNPs map contain long-range regulatory elements that target genes associated with MM risk. The aim of this proposal is to develop an unbiased method to characterise such interactions. By combining these data with conventional fine-mapping, in silico prediction of regulatory function and reporter gene assays we will be able to determine a mechanism underlying identified MM susceptibility loci mapping to these risk loci. This will provide a greater understanding of what causes MM, offering the prospects of developing novel therapeutic interventions and treatments for MM.
Common Scientific Outline (CSO) Research Areas
- 2.2 Causes of Cancer/Etiology Endogenous Factors in the Origin and Cause of Cancer