Validation and functional characterization of GWAS-identified variants for chronic lymphocytic leukemia: a CRuCIAL study

Abstract

In conclusion, this study confirmed the association of 31 GWASidentified SNPs with CLL risk and shed some light on the function of some of these biomarkers in the modulation of TReg, B, and T cell differentiation and proliferation, blood concentrations of B cell-related proteins, cell survival, and the expression of immuneand non-immune-related loci. Though outside the scope of the current study, it is important to mention that additional functional studies using blood samples from CLL patients are still required to validate our findings and to decipher the exact biological mechanisms behind the observed associations. A potential limitation of this work was the relatively small population size of the CRuCIAL cohort that hampered the validation of the SNPs showing modest associations.