Table 2.

Comparison of population-matched patient vs. control excess frequencies (left) and the proportion of genotype-positive patients between Egypt HCM and UK HCM cohorts (right) for sarcomeric and other validated HCM genes

Gene/gene groups	Variant type	Excess of RV in patients vs. controls		Proportion of all G+
		Egypt HCMControl excess	UK HCMControl excess	Egypt HCM G+ prop	UK HCM G+ prop
MYH7	Nontruncating	13.95%**	9.68%**	30.26%	32.88%
	Truncating	3.06%**	0.01%	6.27%	0.91%
MYBPC3	Nontruncating	4.45%**	6.73%**	13.65%	26.94%
	Truncating	9.34%**	5.41%**	17.71%	16.89%
Myosin light chain (MLC)	Nontruncating	5.25%**	0.26%	9.96%	2.28%
	Truncating	0.19%	0.00%	0.37%	0%
Thin Filament	Nontruncating	3.50%**	3.38%**	6.64%	12.33%
	Truncating	0.00%	−0.09%	0%	0%
CSRP3	Nontruncating	1.70%*	0.49%	3.69%	1.83%
	Truncating	0.72%	0.00%	1.85%	0%
JPH2	Nontruncating	1.47%	0.29%	5.17%	1.37%
	Truncating	0%	0%	0%	0%
ACTN2	Nontruncating	−0.11%	0.51%	4.06%	3.65%
	Truncating	0.19%	0%	0.37%	0%
PLN	Nontruncating	0%	−0.23%	0%	0.46%
	Truncating	0%	0.15%	0%	0.46%

Comparison of the excess of rare (FAF ≤ 4 × 10⁻⁵) variation in HCM patients over controls for Egypt and UK cohorts, grouped by gene/gene class and variant class (left). Details of case–control comparisons are shown in Supplementary material online, Table S6 (Egypt cohorts) and S7 (UK cohorts), summarized here as: enrichment in cases (Fisher’s exact one-sided test) with Bonferroni significance (**) or nominal significance (*). Note—the overall case excess across the validated HCM genes/gene classes is 1.6 times greater in the Egypt cohort (Figure 1A); therefore, any comparisons for specific genes or gene classes between Egypt and UK cohorts should take this into account. The proportion of genotype-positive (i.e. those with rare variants) Egypt HCM and UK HCM patients per HCM gene is shown (left).

RV, rare variants; G+, genotype-positive; prop, proportion.