Fig. 2: Functional annotation and gene-set analysis.
From: A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome
a Variants (N = 22) with evidence pointing to a single effect-mediating gene in the form of protein-coding or splicing variants, variants affecting mRNA expression (top cis-eQTL) or plasma protein levels (pQTL), and variants (N = 4) with evidence of pathogenicity (CADD score ≥ 12.4, suggested threshold for pathogenicity64). b Gene-set enrichment analysis revealed an enrichment for genes encoding proteins that are components of the extracellular matrix. The Venn diagram divides the implicated genes into groups based on the functional role of the encoded protein in the extracellular matrix; regulation (blue), secretion (dark gray), and/or structure (light gray). Genes encoding proteins in different protein categories are colored black (collagens), gray (protease inhibitors), navy (proteoglycans), turquoise (glycoproteins), orange (proteases), and bronze (other proteins).
