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. 2019 Mar 28;104(4):665–684. doi: 10.1016/j.ajhg.2019.02.022

Figure 2.

Figure 2

Association between Sentinel Variants and Risk of COA and AOA

The two panels (A and B) respectively show results for COA and AOA sentinel SNPs that were identified in the UK Biobank GWAS and that were subsequently validated in the 23andMe replication study. The x axis shows SNP effects (odds ratio; “OR”) estimated in the COA-affected individuals versus control individuals meta-analysis of the UK Biobank and 23andMe studies, and the y axis shows the effect in the AOA-affected individuals versus control individuals meta-analysis of the same two studies.

In panel (A), variants for which the odds ratio in the AOA-affected individuals versus control individuals analysis was <1.005 are highlighted in red; their genomic context is also highlighted.

Similarly, in panel (B), variants in red had an odds ratio <1.005 in the COA-affected individuals versus control individuals analysis. To help interpret the correlation in odds ratios between the two disease subtypes, we have shown regression lines with increasing beta coefficients (“b,” from 0.1 to 1) in blue.