Familial hypertriglyceridemia: an entity with distinguishable features from other causes of hypertriglyceridemia.
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Cruz-Bautista Ivette, Huerta-Chagoya Alicia, Moreno-Macías Hortensia, Rodríguez-Guillén Rosario, Ordóñez-Sánchez María Luisa, Segura-Kato Yayoi, Mehta Roopa, Almeda-Valdés Paloma, Gómez-Munguía Lizeth, Ruiz-De Chávez Ximena, Rosas-Flota Ximena, Andrade-Amado Arali, Bernal-Barroeta Bárbara, López-Carrasco María Guadalupe, Guillén-Pineda Luz Elizabeth, López-Estrada Angelina, Elías-López Daniel, Martagón-Rosado Alexandro J, Gómez-Velasco Donají, Lam-Chung Cesar Ernesto, Bello-Chavolla Omar Yaxmehen, Del Razo-Olvera Fabiola, Cetina-Pérez Lucely D, Acosta-Rodríguez José Luis, Tusié-Luna María Teresa, Aguilar-Salinas Carlos A
Аннотация
METHODS: This study included 84 FHTG cases, 728 subjects with common mild-to-moderate hypertriglyceridemia (CHTG) and 609 normotriglyceridemic controls. All subjects underwent genetic, clinical and biochemical assessments. A set of 53 single nucleotide polymorphisms (SNPs) previously associated with triglycerides levels, as well as 37 rare variants within the five main genes associated with hypertriglyceridemia (i.e. LPL, APOC2, APOA5, LMF1 and GPIHBP1) were analyzed. A panel of endocrine regulatory proteins associated with triglycerides homeostasis were compared between the FHTG and CHTG groups.
RESULTS: Apolipoprotein B, fibroblast growth factor 21(FGF-21), angiopoietin-like proteins 3 (ANGPTL3) and apolipoprotein A-II concentrations, were independent components of a model to detect FHTG compared with CHTG (AUC 0.948, 95%CI 0.901-0.970, 98.5% sensitivity, 92.2% specificity, P < 0.001). The polygenic set of SNPs, accounted for 1.78% of the variance in triglyceride levels in FHTG and 6.73% in CHTG.
CONCLUSIONS: The clinical and genetic differences observed between FHTG and CHTG supports the notion that FHTG is a unique entity, distinguishable from other causes of hypertriglyceridemia by the higher concentrations of insulin, FGF-21, ANGPTL3, apo A-II and lower levels of apo B. We propose the inclusion of these parameters as useful markers for differentiating FHTG from other causes of hypertriglyceridemia.