Polygenic analysis of the effect of common and low-frequency genetic variants on serum uric acid levels in Korean individuals

Figures

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  Figure 1. Manhattan plot depicting genome-wide association analysis of serum uric acid. Each dot represents a variant plotted as −log10(P-value) on the y axis against the corresponding variant position on the x axis. Dots in blue indicate variants in loci characterised by a genome-wide significance level (shown by the pink dashed line).

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  Figure 2. Comparative analysis of effects of and variations in variants identified in the Korean and European cohort studies. (a) β coefficients and (b) PVE values calculated for GUGC GWAS hit SNPs. (c) β coefficients and (d) PVE values calculated for lead SNPs identified in our study. Plots indicate high concordance in effect size but different proportion of variance explained by the SNPs identified in our cohort (Korean cohort; βKorean and PVEKorean) and the GUGC cohort (European cohort; βEUR and PVEEUR). Each dot indicates a variant and different colours represent the significance level of the variant; genome-wide significance (P-value <5 × 10−8) in both ethnic cohorts (blue), genome-wide significance in only one cohort but nominal significance in the other (P-value <0.05) (sky-blue), insignificance (P-value ≥ 0.05) (black) or missing (grey) significance in the other cohort. The regression line (pink) shows the similarity between the two cohorts. There is greater dissimilarity between the two cohorts when the regression line is far from the y = x line (dotted line). Variants missing in any cohort were excluded from the regression analysis. Abbreviations: ρ, Spearman’s correlation…

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  Figure 3. Distribution of polygenic risk scores (PRS) and serum uric acid (SUA) levels. (a) Polygenic risk scores corresponding to significantly common SNPs were binned by 0.25. (b) Overall pattern of PRS corresponding to the distribution of SUA levels. Participants in each cohort were binned into 10 deciles according to the PRS, and each dot indicates average SUA levels.