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. Author manuscript; available in PMC: 2022 Jun 30.
Published in final edited form as: Nat Genet. 2021 Jan 7;53(1):54–64. doi: 10.1038/s41588-020-00751-5

Figure 7.

Figure 7

A Scheme of the workflow to link common variation in genes causing inborn errors of metabolism (IEM) to complex diseases. 7B Flowchart for the systematic identification of metabolite-associated variants to genes and diseases related to inborn errors of metabolism (IEM). C P-values from phenome-wide association studies among UK Biobank using variants mapping to genes knowing to cause IEMs and binary outcomes classified with the ICD-10 code. Colours indicate disease classes. The dotted line indicates the significance threshold controlling the false discovery rate at 5%. D Posterior probabilities (PPs) from statistical colocalisation analysis for each significant triplet consisting of a metabolite, a variant, and a ICD-10 code among UK Biobank. The dotted line indicates high likelihood (>80%) for one of the four hypothesis tested: H0 – no signal; H1 – signal unique to the metabolite; H2 – signal unique to the trait; H3 – two distinct causal variants in the same locus and H4 – presence of a shared causal variant between a metabolite and a given trait.