Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci

Figures

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  Fig. 1. Outline of this study. Study design and sample sizes for the study groups.

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  Fig. 2. Manhattan plots for SAIGE GWAS scans. Manhattan plots for the 7 analyzed hernia groups, displaying –log10 (P values) from the SAIGE analyses over the chromosomes. The scale for the y-axis is shrinked by a factor of 5 for values above 15. The red line indicates the P threshold for genome-wide significance of 5 × 10−8.

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  Fig. 3. MultiPhen results for associated loci. Distribution of the associated hernia traits (a trait is considered associated if P < 0.01 in the MultiPhen analysis, adjusting for 5 analyzed phenotypes) for the 81 associated loci.

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  Fig. 4. DEPICT enrichment plots. Plots showing the enrichment of loci associated with a inguinal hernia and b any hernia in physiological systems, cell types, and tissues, red columns have FDR < 5%.

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  Fig. 5. GARFIELD hotspots enrichment for inguinal hernia. Enrichment wheel plot from the GARFIELD hotspots analysis for inguinal hernia. The radial spikes display the odds ratios for the tissues noted on the outside at seven P value thresholds (color codes below the plot) for all ENCODE and Roadmap Epigenomics DHS cell lines. The dots just inside the outer circle denote significant (correcting for the number of effective annotations) GARFIELD enrichment separately for each of the five thresholds from 1 × 10−4 to 1 × 10−8.

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  Fig. 6. Genetic correlation analysis for the five forms of hernia. Pairwise genetic correlations estimated via bivariate LD score regression for 245 traits. Only correlations that were significant after correction for multiple testing in at least one form of hernia are shown (P < 2.04 × 10−4, indicated by an asterisk). Positive genetic correlations are shown in blue, negative ones in red for all combinations where P < 0.05, with the size of the colored squares indicating the significance level (truncated at P < 2.04 × 10−4).