Figure 2.

Identification of the CAD-related locus LIPA on chromosome 10q23.31. A. Forest Plots for rs2246833 and rs1412444. Meta-analysis of the association of rs2246833 and rs1412444 with coronary artery disease was performed in a case-control design including 14 independent cohorts of European ancestry with n=59,789. Individual studies are plotted against the individual odds ratios (OR). Horizontal lines are the confidence intervals corresponding to the P-value threshold of 5×10^–8. The vertical line indicates the value is consistent with no association. If a single-nucleotide polymorphism was not available in a study, there is no data point for that study. The diamond represents the meta-analytic effect size. For reasons of quality control after imputation no data are available for GerMIFS I. B. Association of the eSNPs rs2246833 and rs1412444 with LIPA gene expression. Boxplots are shown for the fold change of LIPA expression in relation to the genotype. Fold change of LIPA expression was calculated relative to median expression of the non-risk allele genotype (C). C. Locus-specific regional association plots for discovery GWA and eQTL analysis results on chromosome 10q23.31 (LIPA). The figure shows from top to bottom: i -log10(P) of the association between SNPs and case and control status (primary GWA), ii -log10(P) of the association between SNPs and LIPA expression (eQTL transcript), and iii recombination fraction based on HapMap and positions of genes. SNP rs2246833, with the smallest eQTL P is represented by a blue diamond. Other SNPs are color coded according to pairwise LD (r²) with this SNP. (see legend in figure). Note that SNP rs1412444 is colored in red (r² =0.985).