Fig. 5: Site-enriched genes show evidence of disease causality in humans.
From: Region-specific gene expression and sex inform about disease susceptibility in the aorta
a, Pipeline for identifying enrichment of regional vSMC gene signatures with CV disease incidence. b, Quantification of regional signature genes and known CV GWAS candidate genes assessed by one-sided Fisher’s exact test. c, Visualization of regional vSMC gene signatures with known eQTLs in the GTEx database assessed by one-sided Fisher’s exact test. d, Expression of Cpne8 in the four mouse vascular regions. e, eQTL plot visualizing SNPs residing within 1 Mb of CPNE8 in GTEx and STARNET as well as individual plots for the top CPNE8 GTEx eQTL (rs2630779) and the GTEx eQTL closest to the peak arterial stiffness GWAS SNP (rs1486346). f, Expression of Sorbs2 in the four mouse vascular regions. g, eQTL plot visualizing SNPs residing within 500 kb of SORBS2 in GTEx and STARNET as well as individual plots for the top SORBS2 GTEx eQTL (rs10027404) and the GTEx eQTL closest to the peak diastolic and systolic blood pressure GWAS SNP (rs5018568). For e,g, n is the number of individuals with indicated genotype per SNP as follows: rs2630779: TT, 15; TC, 63; CC, 309; P = 1.47 × 10−15. rs1486346: TT, 7; TG, 25; GG, 355; P = 1.54 × 10−5. rs10027404: TT, 243; TC, 124; CC, 20; P = 2.53 × 10−17. rs5018568: CC, 208; CT, 145; TT, 34; P = 9.57 × 10−6. Box plot lower and upper boundaries represent 25th and 75th quartiles, while the midline represents the mean normalized transcript expression per genotype group. Nominal P values were generated for each variant–gene pair (eQTL) by testing against a linear regression model between genotype and expression using FastQTL as described by GTEx. Panel a created using BioRender.com.
