Table 3.

Genetic characterization of main phenotypic cohorts sequenced using the LipidSeq panel

	Rare variant	Extreme PS	Overall Genetic Profile
			Rare variant only	Rare variant and an extreme PS	Extreme PS only	No relevant genetic determinants
Familial Hypercholesterolemia N = 924	393 (42.5%)	115 (12.4%)	354 (38.3%)	39 (4.2%)	76 (8.2%)	455 (49.2%)
Hypertriglyceridemia N = 1308	312 (23.6%)	428 (32.7%)	227 (17.4%)	82 (6.3%)	346 (26.4%)	653 (49.9%)

The “Rare variant” category includes SNVs, indels, and CNVs; these counts include causative and relevant determinants. An extreme polygenic score was defined as being greater than or equal to the 90th percentile, as calculated using the European subgroup of the 1000 Genomes Project (N = 503) [23] The “No related genetic determinants” category refers to patients that had neither a rare variant disrupting a related, canonical metabolism gene, nor an extreme PS. The LDL cholesterol polygenic score calculated in the FH cohort [44] and the triglyceride polygenic score calculated in the hypertriglyceridemia cohort [45] have both been reported previously. Abbreviations: PS polygenic score