Figure 8.

Colocalization between glaucoma risk variant rs944800 and expression of ANRIL in GTEx. (A) eQTL signal in GTEx v8 fibroblast cells (n = 483) for ANRIL colocalizes with that of glaucoma GWAS on the lead variant, rs944800 by coloc (PPH₄ = 0.688). Pearson correlation is shown between log-transformed p values of eQTL (y-axis) and GWAS (x-axis). Variants are color-coded based on the LD R² (1000 Genomes, EUR, phase 3) with the candidate variant (red dot, rs944800). (B) Regional association plots of eQTL (blue shadow) and GWAS (green shadow) within +/− 100 kb of rs944800 are presented. The horizontal line indicates genome-wide significant p-value for GWAS (5 × 10⁻⁸) and genome-wide empirical p-value threshold for eQTL of ANRIL (2.3 × 10⁻⁴). UCSC tracks of gene and annotation are displayed as the full mode in this region. (C) eQTL violin plots were directly adopted from GTEx v8 data through GTEx portal (gtexportal.org). p-value and slope (relative to G allele in rs944800, which is the glaucoma protective allele) were derived from linear regression with no multiple-testing correction.