Figure 5
From: Rare non-coding variants are associated with plasma lipid traits in a founder population
Rare variants on chromosomes 16 are associated with HDL-C. (a) Locus plots. The top panel shows the p-values of association with HDL-C for all variants discovered in the Hutterites regardless of allele frequency in Europeans. Symbols correspond to the maximum allele frequency in Europeans, with closed circles representing REVs (see legend), and are colored based on their LD r2 with the most associated variant in the region (rs189679427). The next three panels show tracks for the annotations selected in the fgwas joint model, annotations of known GWAS loci from NHGRI, and the estimated PPA of being causal for each variant in the reweighted fgwas. The bottom-most panel shows the genes in the region. (b) Boxplots of association between HDL-C levels (y-axis) and rs189679427 (intergenic variant between GOT2 and APOOP5; p = 1.27 × 10 −6 ). (c) Genotype boxplots of rs189679427 eQTL for GOT2 expression in LCLs (p = 0.004). Numbers beneath genotypes correspond to the number of individuals in each class.
