Figure 6
From: Rare non-coding variants are associated with plasma lipid traits in a founder population
LDL-C conditional analysis on top rare variant (rs557778817). (a) Locus plot. Conditional analysis on rs557778817 identified novel common variants with suggestive significance. The next three panels show annotations of known GWAS loci from NHGRI and genes in the region. (b) LDLR and PDE4A variant haplotype boxplots for LDL-C levels and LDLR LCL expression. Phased alleles are the lead common signal in PDE4D identified in conditional analysis (rs513663; top) and the candidate LDLR rare intronic variant identified in the fgwas (rs17242388; bottom). The trends observed between each of five haplotype combinations present in our sample suggest these variants have additive effects that lower LDLR expression and increase LDL-C levels.
