fig3

Figure 3. Identifying the causal variant and target genes using eQTL analysis. (A) GWAS variants are non-coding, and causal and non-causal disease variants are in strong LD. (B) eQTL analysis can identify the variants that affect gene expression in disease-relevant tissues. (C) A difference in expression (transcription) of gene A is mediated by genotypes (A/A, A/T/, T/T) leading to a phenotype. The expression of the gene B is not influenced by the genotypes. eQTL: Expression quantitative trait loci; GWAS: genome-wide association studies; LD: linkage disequilibrium; SNP: single nucleotide polymorphism.