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ABSTRACT: Background
Familial hypertriglyceridemia (FHTG) is a partially characterized primary dyslipidemia which is frequently confused with other forms hypertriglyceridemia. The aim of this work is to search for specific features that can help physicians recognize this disease.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?ConclusionsThe 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.
SUBMITTER: Cruz-Bautista I
PROVIDER: S-EPMC7885394 | biostudies-literature | 2021 Feb
REPOSITORIES: biostudies-literature
Cruz-Bautista Ivette I Huerta-Chagoya Alicia A Moreno-Macías Hortensia H Rodríguez-Guillén Rosario R Ordóñez-Sánchez María Luisa ML Segura-Kato Yayoi Y Mehta Roopa R Almeda-Valdés Paloma P Gómez-Munguía Lizeth L Ruiz-De Chávez Ximena X Rosas-Flota Ximena X Andrade-Amado Arali A Bernal-Barroeta Bárbara B López-Carrasco María Guadalupe MG Guillén-Pineda Luz Elizabeth LE López-Estrada Angelina A Elías-López Daniel D Martagón-Rosado Alexandro J AJ Gómez-Velasco Donají D Lam-Chung Cesar Ernesto CE Bello-Chavolla Omar Yaxmehen OY Del Razo-Olvera Fabiola F Cetina-Pérez Lucely D LD Acosta-Rodríguez José Luis JL Tusié-Luna María Teresa MT Aguilar-Salinas Carlos A CA
Lipids in health and disease 20210215 1
<h4>Background</h4>Familial hypertriglyceridemia (FHTG) is a partially characterized primary dyslipidemia which is frequently confused with other forms hypertriglyceridemia. The aim of this work is to search for specific features that can help physicians recognize this disease.<h4>Methods</h4>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 asses ...[more]