Fig. 7.

Genes and gene categories harboring deleterious variants stratified by sex. (a) Bar plots showing no difference in burden of rare deleterious variants in cardiomyopathy genes between male and female patients (871 males, 526 females) across all cardiomyopathy types, (b) in HCM patients, and (c) in DCM patients (orange = missense variants, green = loss of function variants). (d) The forest plot shows the log odds ratio comparing proportion of variant carriers between male and female patients across different gene categories in DCM, HCM and overall cohort. Z-disc genes were enriched for variants in female compared to male DCM patients. Filled circles indicate significant differences between male and female patients (p < 0.05). CMP, cardiomyopathy (black); DCM, dilated cardiomyopathy (blue), HCM, hypertrophic cardiomyopathy (red); LoF, loss of function