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Article

Loss-of-Function CREB3L3 Variants in Patients With Severe Hypertriglyceridemia

25 Jun 2020

Abstract excerpt

Objective: Genetic determinants of severe hypertriglyceridemia include both common variants with small effects (assessed using polygenic risk scores) plus heterozygous and homozygous rare variants in canonical genes directly affecting triglyceride metabolism. Here, we broadened our scope to detect associations with rare loss-of-function variants in genes affecting noncanonical pathways, including those known to...

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PMID: 32580631
DOI: 10.1161/atvbaha.120.314168

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