Extended Data Fig. 4: Integration of Kidney Function GWAS (European ancestry population only) and kidney eQTL and pQTL data using Coloc and Moloc Analysis.
From: The proteogenomic landscape of the human kidney and implications for cardio-kidney-metabolic health
(a) Coloc and moloc analysis overlap for eGFR GWAS, and kidney eQTL, and pQTL: Venn diagram illustrating the intersection between proteins and genes identified as significant in coloc analysis and further refined by moloc analysis. This highlights 8 kidney proteins/genes that were found to be significant in moloc. (b) LocusZoom plots describing the association signals for the ARL6IP5 across eGFR GWAS traits, kidney pQTLs, and eQTLs, with a high posterior probability of association (PPA = 0.99). The lead SNV, rs7039, is also shown. ARL6IP5 serves as a representative example among the 14 proteins/genes found significant in moloc analysis. (c) ARL6IP5 expression with protein and gene level associations: Box plots illustrating the association of lead SNV of ARL6IP5 (rs7039) (x-axis) with ARL6IP5 protein and RNA expression levels (y-axis). Linkage disequilibrium (LD) information is derived from the European population data provided by the 1000 Genomes Project. Each dot represents an individual patient (n = 321 for protein, n = 311 for gene). Box plots show the median, 25th and 75th percentiles, and values within 1.5× the interquartile range. Group differences were assessed using one-way ANOVA.
