Key result
Rare DNA sequence variants in candidate genes were identified in 54% of patients with severe hypertriglyceridaemia, with LPL mutations being the most prevalent (34%).
Why the study?
What is the prevalence of mutations in LPL, APOC2, APOA5, GPIHBP1, and LMF1 in patients with severe hypertriglyceridaemia?
Population
86 patients with type 1 and type 5 severe hypertriglyceridaemia referred to a lipid clinic, and 327 controls
Comparison
Sequencing of the coding regions of LPL, APOC2… vs 327 controls
Design
Case-control
Authors
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Supports candidate gene sequencing in severe hypertriglyceridaemia; leaves open whether variant identification improves outcomes.
Case-Control (n=413)
No
What is the prevalence of mutations in LPL, APOC2, APOA5, GPIHBP1, and LMF1 in patients with severe hypertriglyceridaemia?
Routine sequencing of candidate genes in severe hypertriglyceridaemia reveals that rare variants, particularly in LPL, are present in over half of patients, improving understanding of its molecular basis.
Surendran et al. (2012) conducted a case-control in severe hypertriglyceridaemia (n=413). Genetic mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 vs. Controls was evaluated on Presence of rare DNA sequence variants. Rare DNA sequence variants in candidate genes were identified in 54% of patients with severe hypertriglyceridaemia, with LPL mutations being the most prevalent (34%).
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