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Table 3 Genetic characterization of main phenotypic cohorts sequenced using the LipidSeq panel

From: Six years’ experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias

 

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%)

  1. 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