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Figure 2 | Human Genomics

Figure 2

From: From DNA to RNA to disease and back: The 'central dogma' of regulatory disease variation

Figure 2

The three panels show the signal of association (as - log p -value of individual single nucleotide polymorphism (SNP) - phenotype associations) of genomic regions with disease, gene expression of gene A and gene expression of gene B. From this plot, it is suggested that genetic variation that increases disease risk is also associated with gene expression variation of gene A (assuming that the associated SNPs and haplotypes are the same). This probably indicates that the disease risk is a regulatory effect and that the amount of transcript (or protein) of gene A is critical for the development of the disease.

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