Figure 4.
Common variants in SLC40A1, SPTA1, and ANK1 loci are associated with spleen iron and colocalize with cis-regulatory variation
(A) Fine-mapped locus near SLC40A1 is associated with spleen iron (lead SNP: rs13008848).
(B) Fine-mapped locus near SPTA1 is associated with spleen iron (lead SNP: rs2479868).
(C) Fine-mapped locus near ANK1 is associated with spleen iron (lead SNP: 4373010).
(D) Co-localization of cis-regulatory variation in the SLC40A1 locus and spleen iron. Co-localization at this locus was observed in multiple tissues (posterior probability ≥ 0.99 for each). Blood cis-eQTL data are shown.
(E) Cis-regulatory variation in the SPTA1 locus co-localizes with spleen iron. A signal was observed in multiple tissues but did not meet significance threshold in whole blood (posterior probability = 0.72).
(F) Cis-regulatory variation at the ANK1 locus co-localizes with spleen iron. Co-localization was observed in multiple tissues (posterior probability ≥ 0.99). Gray dashed line indicates genome-wide significance (p = 5e−8). For all eQTL signals, a threshold of FDR < 5% was used in GTEx.54 Linkage disequilibrium was calculated with 1000 Genomes Phase 3. Gene models are shown at bottom in GRCh38 coordinates.