Figure 1Association Results, Recombination and Linkage Disequilibrium Plots for 13q22.1, 1q32.1, and 5p15.33
Association results are shown in the top panel for all cohort studies (blue squares), case-control studies (green squares) and all studies combined (red diamonds). Overlaid on the association panel for each locus is a plot of recombination rates (cM/Mb) across the region from CEU study controls. A. The LD plot shows a region of chromosome 13q22.1 marked by SNPs, rs9543325 and rs9564966 and bounded by SNPs between chromosome 13q22.1:72,721,214-72,854,007. These SNPs are within a 600 kb intergenic region between KLF5 and KLF12. B. The LD plot shows a region of chromosome 1q32.1 marked by 5 SNPs, rs3790844, rs10919791, rs3790843, rs12029406 and rs4465241 and bounded by SNPs between chromosome 1q32.1:198,125,014-198,317,613. Note that rs3790844 and rs3790843are located in the first intron of the NR5A2 gene, shown above the LD plot. C. The LD plot shows a region of chromosome 5p15.33 marked by rs401681and bounded by SNPs between chr5p15.33: 1,296,475-1,476,905. rs401681 is located in the 13th intron of the CLPTM1L gene, shown above the LD plot and 27 kb from the TERT gene. For all panels, LD (r2) is depicted for SNPs with MAF > 5% using PanScan Controls of European background (n=3,650 unrelated individuals). Locations are from NCBI Genome Build 36.