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Genetic variants in triglyceride metabolism genes among individuals with hypertriglyceridemia in Colombia.
Puerto-Baracaldo, Kathalina; Amaya-Montoya, Mateo; Parra-Serrano, Gustavo; Prada-Robles, Diana C; Serrano-Gómez, Sergio; Restrepo-Giraldo, Lina M; Fragozo-Ramos, María C; Tangarife, Verónica; Giraldo-González, Germán C; Builes-Barrera, Carlos A; Naranjo-Vanegas, Melisa S; Gómez-Aldana, Andrés; Llano, Juan Pablo; Gil-Ochoa, Nayibe; Nieves-Barreto, Luz D; Gaete, Paula V; Pérez-Mayorga, Maritza; Mendivil, Carlos O.
Afiliação
  • Puerto-Baracaldo K; School of Medicine, Universidad de los Andes, Bogotá, Colombia (Drs Puerto-Baracaldo, Amaya-Montoya, Nieves-Barreto, Gaete and Mendivil).
  • Amaya-Montoya M; School of Medicine, Universidad de los Andes, Bogotá, Colombia (Drs Puerto-Baracaldo, Amaya-Montoya, Nieves-Barreto, Gaete and Mendivil).
  • Parra-Serrano G; Facultad de Salud, Universidad Autónoma de Bucaramanga, Bucaramanga, Colombia (Drs Parra-Serrano and Serrano-Gómez).
  • Prada-Robles DC; Grupo de Investigación en Laboratorio Clínico y Banco de Sangre Higuera Escalante, Bucaramanga, Colombia (Dr Prada-Robles).
  • Serrano-Gómez S; Facultad de Salud, Universidad Autónoma de Bucaramanga, Bucaramanga, Colombia (Drs Parra-Serrano and Serrano-Gómez).
  • Restrepo-Giraldo LM; Grupo Célula, Laboratorio Clínico Hematológico, Medellín, Colombia (Drs Restrepo-Giraldo, Fragozo-Ramos, and Tangarife).
  • Fragozo-Ramos MC; Grupo Célula, Laboratorio Clínico Hematológico, Medellín, Colombia (Drs Restrepo-Giraldo, Fragozo-Ramos, and Tangarife).
  • Tangarife V; Grupo Célula, Laboratorio Clínico Hematológico, Medellín, Colombia (Drs Restrepo-Giraldo, Fragozo-Ramos, and Tangarife).
  • Giraldo-González GC; Facultad de Ciencias de la Salud, Universidad de Caldas, Manizales, Colombia (Dr Giraldo-González).
  • Builes-Barrera CA; Sección de Endocrinología, Universidad de Antioquia, Medellín, Colombia (Dr Builes-Barrera); Centro de Biociencias, Seguros SURA, Medellín, Colombia (Drs Builes-Barrera and Naranjo-Vanegas).
  • Naranjo-Vanegas MS; Centro de Biociencias, Seguros SURA, Medellín, Colombia (Drs Builes-Barrera and Naranjo-Vanegas).
  • Gómez-Aldana A; Hospital Universitario Fundación Santa Fé de Bogotá, Bogotá, Colombia (Dr Gómez-Aldana).
  • Llano JP; Laboratorio de Investigación Hormonal, Bogotá, Colombia (Drs Llano and Gil-Ochoa).
  • Gil-Ochoa N; Laboratorio de Investigación Hormonal, Bogotá, Colombia (Drs Llano and Gil-Ochoa).
  • Nieves-Barreto LD; School of Medicine, Universidad de los Andes, Bogotá, Colombia (Drs Puerto-Baracaldo, Amaya-Montoya, Nieves-Barreto, Gaete and Mendivil).
  • Gaete PV; School of Medicine, Universidad de los Andes, Bogotá, Colombia (Drs Puerto-Baracaldo, Amaya-Montoya, Nieves-Barreto, Gaete and Mendivil).
  • Pérez-Mayorga M; Facultad de Medicina, Universidad Militar Nueva Granada, Bogotá, Colombia (Dr Pérez-Mayorga).
  • Mendivil CO; School of Medicine, Universidad de los Andes, Bogotá, Colombia (Drs Puerto-Baracaldo, Amaya-Montoya, Nieves-Barreto, Gaete and Mendivil); Endocrinology Section, Department of Internal Medicine, Fundación Santa Fe de Bogotá, Bogotá, Colombia (Dr Mendivil). Electronic address: cmendivi@uniandes.edu.co
J Clin Lipidol ; 2024 Aug 19.
Article em En | MEDLINE | ID: mdl-39278772
ABSTRACT

BACKGROUND:

The genetic substrate of severe hypertriglyceridemia (sHTG) in Latin America is insufficiently understood.

OBJECTIVE:

To identify genetic variants in genes related to triglyceride (TG) metabolism among adults with sHTG from Colombia.

METHODS:

In individuals with plasma TG≥880 mg/dL at least once in their lifetime, we amplified and sequenced all exons and intron/exon boundaries of the genes LPL, APOC2, APOA5, GPIHBP1 and LMF1. For each variant we ascertained its location, zygosity, allelic frequency and pathogenicity classification according to American College of Medical Genetics (ACMG) criteria.

RESULTS:

The study included 166 participants (62 % male, mean age 50), peak TG levels ranged between 894 and 11,000 mg/dL. We identified 92 variants 19 in LPL, 7 in APOC2, 11 in GPIHBP1, 38 in LMF1, and 17 in APOA5. Eighteen of these variants had not been reported. We identified a new pathogenic variant in LMF1 (c.41C>A; p.Ser14*), a new likely pathogenic variant in LMF1 (c.1527 C > T; p.Pro509=, also expressed as c.1447C>T; p.Gln483*), and a known pathogenic variant in LMF1 (c.779G>A; p.Trp260*). Four participants were heterozygous for variant c.953A>G; p.Asn318Ser in LPL, a known risk factor for hypertriglyceridemia. Participants with variants of unknown significance (VUS) in LMF1 had significantly higher peak TG than those with VUS in other genes. Peak TG were 4317 mg/dL in participants with a history of pancreatitis, and 1769 mg/dL in those without it (p = 0.001).

CONCLUSION:

Our study identified variants associated with sHTG among Latinos, and showed that genetic variation in LMF1 may be frequently associated with sHTG in this population.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE País/Região como assunto: America do sul / Colombia Idioma: En Revista: J Clin Lipidol Assunto da revista: BIOQUIMICA / METABOLISMO Ano de publicação: 2024 Tipo de documento: Article País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE País/Região como assunto: America do sul / Colombia Idioma: En Revista: J Clin Lipidol Assunto da revista: BIOQUIMICA / METABOLISMO Ano de publicação: 2024 Tipo de documento: Article País de publicação: Estados Unidos