ZFIN Image: Lesurf et al., 2022, Fig. 3

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Figure Caption

Fig. 3 Regulatory variant burden in cases (<italic>n</italic> = 209) and controls (<italic>n</italic> = 1326).

a There was a significant enrichment of high-risk regulatory variants in CMP genes in the cases (orange) compared to controls (blue) (OR 2.25, 95% CI: 1.65–3.07, p = 6.70 × 10⁻⁷). b Burden of regulatory variants genes in cases in the discovery and 100,000 Genomes Project cohorts versus controls. Top 4 genes enriched for regulatory variants compared to controls included FKTN (OR = 58.1, CI: 3.1–1083), DTNA (OR = 6.7, CI: 3.0–14.8), DSC2 (OR = 32.0, CI: 1.5–668) and DSG2 (OR = 10.6, CI: 1.4–81). Tier 1 gene and primary CMP gene classifications are denoted by plus symbols. c Replication cohort (n = 1266): scatter plot showed a positive correlation between genes enriched for high-risk regulatory variants in the CMP discovery cohort vs the 100,000 Genomes Project replication cohort (Spearman ρ² 0.555, p = 0.000936) with the top genes being similar in both CMP cohorts (FKTN, DTNA, DSC2, DSG2).

Acknowledgments

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