Altered regulation of DPF3, a member of the SWI/SNF complexes, underlies the 14q24 renal cancer susceptibility locus.

Results Characterization of functional activity of RCC GWAS sentinel SNP, rs4903064, at 14q24 We used an integrated approach to prioritize putative functional cis -regulatory SNPs from 20 RCC GWAS regions (n = 11 loci achieving genome-wide significance and n = 9 marginally significant regions, 5 × 10 −8 < p assoc < 5 × 10 −6 ) and screened with 774 variants with a massively parallel reporter assay (MPRA). 38 Herein, we focused on variants from the 14q24 RCC susceptibility region, tagged by rs4903064 22 ( Figure 1 A, Figure S1 ); 39 SNPs in LD to the sentinel SNP (R 2 > 0.2, 1000

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