Fig. 1: Shared genetic variants associated with kidney function, human kidney methylation, and DPEP1/CHMP1A expression. | Nature Communications

Fig. 1: Shared genetic variants associated with kidney function, human kidney methylation, and DPEP1/CHMP1A expression.

From: A single genetic locus controls both expression of DPEP1/CHMP1A and kidney disease development via ferroptosis

Fig. 1

a LocusZoom plots of eGFR GWAS, human kidney mQTL analysis (genotype-methylation, n = 188), eQTLs (genotype-expression of DPEP1) in kidney compartments (tubule n = 121 or glomerulus n = 119). b LocusZoom plots of eGFR GWAS, human kidney mQTL analysis (genotype-methylation, n = 188), eQTLs (genotype-expression of CHMP1A) in kidney compartments (tubule n = 121 or glomerulus n = 119). The x-axis indicates the genomic location on chromosome 16. The arrow indicates the transcriptional direction for specific genes. Each dot represent one SNP. The dots are colored according to their correlation to the index SNP (rs164748). The red dots indicates strong correlation (r2 > 0.8) (LD) with the index SNP. The left y-axis indicates −log10 (P value). The right y-axis indicates recombination rate (cM/Mb). c Genotype (rs164748) and gene expression (DPEP1 and CHMP1A) association in human tubules (n = 121) and glomeruli (n = 119) in the Susztak lab database40. The effect size estimate (Beta) and standard error (SE) are as below: DPEP1 tubule Beta = 0.811 and SE = 0.11; DPEP1 glom Beta = 0.889 and SE = 0.11; CHMP1A tubule Beta = −0.766 and SE = 0.113; CHMP1A glom Beta = −0.587 and SE = 0.127. Centerlines show the medians; box limits indicate the 25th and 75th percentiles; whiskers extend to the 5th and 95th percentiles. P value was calculated as previously published40.

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