Figure 4.

Co-localization of AS risk loci and NK cell eQTLs points to putative target genes for AS risk variants

(A–D) Manhattan plots showing AS GWAS and NK cell eQTL −log10(p values) for SNPs within 500 kb of a lead GWAS SNP. The color of each SNP indicates its level of linkage disequilibrium (LD) between with the lead GWAS SNP (purple diamond). Genes in the region are colored according to their posterior probability of hypothesis four (PP4) (i.e., that the same causal variant is shared between AS and the eQTL for that gene).

(A) Manhattan plots identifying putative target gene ERAP1 using AS IGAS GWAS (top) and NK microarray gene eQTL data obtained from Gilchrist et al.³² (bottom).

(B) Manhattan plots identifying putative target gene TNFRSF1A using AS IGAS GWAS (top) and NK gene eQTL data obtained from Schmiedel et al.³¹ (bottom).

(C) Manhattan plots identifying putative target gene ENTR1 using AS IGAS GWAS (top) and NK microarray gene eQTL data obtained from Gilchrist et al.³² (bottom).

(D) Manhattan plots identifying putative target gene B3GNT2 using AS IGAS GWAS (top) and NK gene expression QTL (eQTL) data obtained from Schmiedel et al.³¹ (bottom). All QTL summary statistics taken from eQTL Catalog.