The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort

Figures

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  Fig. 1. Workflow of the ECCO-GEN EHVol study. Study participants (1) were recruited from the general population via announcements (brochures, flyers, and public events); (2) completed a questionnaire providing demographic data, family, and clinical history; and (3) underwent detailed cardiovascular clinical assessment and blood sampling. (4) All data were recorded and managed in a local REDCap database. Rounds of exclusion: first round of exclusion is based on the basis of demographic and general health questionnaires as described under “study protocol and data collection”. A second round of exclusion was based on detailed cardiovascular phenotyping as described under “cardiovascular phenotyping” in the “Methods” section. ECCO-GEN The Egyptian Collaborative Cardiac Genomics, EHVol Egyptian healthy volunteers. Created with BioRender.

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  Fig. 2. All of the variants absent from gnomAD were rare in the EHVol cohort (seen in <1% of the cohort). a Bar graph showing the distribution of observed ACs (binned) of variants identified in the EHVol cohort. The proportion of variants that were present in gnomAD (all populations) is shown in gray and the proportion of variants that were only present in our cohort is represented in blue. b Bar graph showing the classification of the EHVol variants in each AC bin for variants that were captured in gnomAD (EHVol + gnomAD) and variants that were absent from gnomAD (EHVol only). Variants included in this analysis were collated by LoF, other protein-altering, and synonymous variants (color-coded in figure). EHVol Egyptian healthy volunteer, AC: allele count.

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  Fig. 3. Rare variation in CM genes in EHVol and CHVol controls. Bar charts represent the proportion of individuals with rare variants in a DCM and b HCM, and LVH syndromic genes. The first and second bars represent the CHVol and EHVol cohorts, respectively. Variants are collated by variant class (LoF, synonymous, and other protein altering). CM cardiomyopathy, EHVol Egyptian healthy volunteer, CHVol Caucasian healthy volunteers, DCM dilated cardiomyopathy, HCM hypertrophic cardiomyopathy, LVH left ventricular hypertrophy.

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  Fig. 4. Distribution of rare TTN LoF and MYH7 missense and LoF variants in the EHVol, CHVol, and gnomAD cohorts. Variant distribution is shown relative to a schematic representation of the a TTN protein, with sarcomere regions delimited and the b MYH7 protein with myosin domains delimited. The number of circles represent the number of individuals carrying the rare variant. EHVol Egyptian healthy volunteer, CHVol Caucasian healthy volunteers, TTN (ENST00000589042); MYH7 (ENST00000355349).