April 23, 2016Lipids in Health and DiseaseOpen Access

Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain

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Structured PICO

Population

23,310 adults (over 18 years) from a primary care district in Zaragoza, Spain, screened for severe hypertriglyceridemia (TG >500 mg/dL), including 90 subjects with primary hypertriglyceridemia.

Intervention

Genetic sequencing of LPL, LMF1, APOC2, APOA5, APOE, and GPIHBP1 genes.

Comparator

90 control subjects.

Outcome

Prevalence of severe hypertriglyceridemia and frequency of rare mutations in candidate genes.surrogate

The low frequency of rare mutations in candidate genes among patients with primary severe hypertriglyceridemia suggests that routine genetic testing may not be clinically warranted in this population.

Discussion

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Implication

May not support routine genetic testing in primary severe hypertriglyceridemia; leaves open polygenic or other etiologies.

Cite This Study

Lamíquiz-Moneo et al. (2016) studied this question.

synapsesocial.com/papers/6a82c242fdcaa17bff6d0dc8 https://doi.org/10.1186/s12944-016-0251-2

View Full Paper

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Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain

Structured PICO

Discussion

Implication

Cite This Study

Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain

Structured PICO

Discussion

Implication

Cite This Study

Also Consider

Also Consider