Fig. 1: GWAS meta-analysis and PRS of AAA. | Nature Genetics

Fig. 1: GWAS meta-analysis and PRS of AAA.

From: Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target

Fig. 1: GWAS meta-analysis and PRS of AAA.The alternative text for this image may have been generated using AI.

a, Flowchart of GWAS meta-analysis. The initial analysis generated 126 genome-wide significant loci but five were excluded based on sensitivity analysis and QC. b, MAF is plotted against effect estimates (39,221 AAA cases and 1,086,107 controls) for genome-wide significant index variants. The robust increase in sample size compared to previous studies allowed for the identification of new disease-associated variants with smaller effect estimates. Two dashed lines represent MAF = 0.01 and 0.05. c, Performance of PRS constructed based on the current meta-analysis (AAAgen) was compared with the one in ref. 13, the largest previously published GWAS of AAA. We observed improved prediction by AUC in all validation datasets. d, C-index of Cox models (10-year risk) with 95% CI in UKBB (838 incident AAA cases and 329,983 controls). The baseline model includes age, age2 and sex. The dashed line is at the C-index value from the baseline model. All subsequent models with clinical measurements and PRS incorporate the baseline variables.

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