Key result
Carrying a rare loss-of-function variant in CREB3L3 was associated with a 20.2-fold increased likelihood of severe hypertriglyceridemia compared to controls (OR 20.2; 95% CI 1.11-366.1; P=0.03).
Why the study?
Genetic determinants of severe hypertriglyceridemia include canonical genes, but the role of rare loss-of-function variants in noncanonical pathway genes affecting triglyceride metabolism indirectly remained to be investigated.
Are rare loss-of-function variants in the CREB3L3 gene associated with severe hypertriglyceridemia in patients of European descent?
Case-Control (n=742)
Are rare loss-of-function variants in the CREB3L3 gene associated with severe hypertriglyceridemia in patients of European descent?
Odds Ratio: 20.2 (95% CI 1.11–366.1)
p-value: p=0.03
Rare loss-of-function variants in the noncanonical gene CREB3L3 are significantly associated with severe hypertriglyceridemia, highlighting the role of secondary pathways in lipid metabolism.
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Supports CREB3L3 loss-of-function variants as a risk factor for severe hypertriglyceridemia; leaves open clinical utility of testing.
Dron et al. (2020) conducted a case-control in Severe hypertriglyceridemia (n=742). Rare loss-of-function variants in CREB3L3 vs. Normolipidemic controls was evaluated on Carriage of a rare loss-of-function variant in CREB3L3 (OR 20.2, 95% CI 1.11-366.1, p=0.03). Carrying a rare loss-of-function variant in CREB3L3 was associated with a 20.2-fold increased likelihood of severe hypertriglyceridemia compared to controls (OR 20.2; 95% CI 1.11-366.1; P=0.03).
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