TY - JOUR
T1 - Familial hypertriglyceridemia
T2 - an entity with distinguishable features from other causes of hypertriglyceridemia
AU - Cruz-Bautista, Ivette
AU - Huerta-Chagoya, Alicia
AU - Moreno-Macías, Hortensia
AU - Rodríguez-Guillén, Rosario
AU - Ordóñez-Sánchez, María Luisa
AU - Segura-Kato, Yayoi
AU - Mehta, Roopa
AU - Almeda-Valdés, Paloma
AU - Gómez-Munguía, Lizeth
AU - Ruiz-De Chávez, Ximena
AU - Rosas-Flota, Ximena
AU - Andrade-Amado, Arali
AU - Bernal-Barroeta, Bárbara
AU - López-Carrasco, María Guadalupe
AU - Guillén-Pineda, Luz Elizabeth
AU - López-Estrada, Angelina
AU - Elías-López, Daniel
AU - Martagón-Rosado, Alexandro J.
AU - Gómez-Velasco, Donají
AU - Lam-Chung, Cesar Ernesto
AU - Bello-Chavolla, Omar Yaxmehen
AU - Del Razo-Olvera, Fabiola
AU - Cetina-Pérez, Lucely D.
AU - Acosta-Rodríguez, José Luis
AU - Tusié-Luna, María Teresa
AU - Aguilar-Salinas, Carlos A.
N1 - Publisher Copyright:
© 2021, The Author(s).
PY - 2021/12
Y1 - 2021/12
N2 - 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 < 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.
AB - 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 < 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.
KW - ANGPTL3
KW - Apolipoprotein B
KW - Chylomicronemia
KW - FGF-21
KW - Familial hypertriglyceridemia
KW - Mexicans
KW - Primary dyslipidemias
UR - http://www.scopus.com/inward/record.url?scp=85101485953&partnerID=8YFLogxK
U2 - 10.1186/s12944-021-01436-6
DO - 10.1186/s12944-021-01436-6
M3 - Artículo
C2 - 33588820
AN - SCOPUS:85101485953
SN - 1476-511X
VL - 20
JO - Lipids in Health and Disease
JF - Lipids in Health and Disease
IS - 1
M1 - 14
ER -
