Autor según el artículo: Guardiola M; Ibarretxe D; Plana N; Masana L; Ribalta J
Departamento: Medicina i Cirurgia
Autor/es de la URV: Guardiola Guionnet, Montserrat / Ibarretxe Gerediaga, Daiana / Masana Marín, Luis / Plana Gil, Núria / Ribalta Vives, Josep
Palabras clave: Triglycerides Epigenome Dna methylation triglycerides smoking f2rl3 methylation epigenome association
Resumen: Background: Chylomicronemias are generally diagnosed genetically by genomic sequencing or screening for mutations in causal genes with a large phenotypic effect. This strategy has allowed to improve the characterization of these patients, but we still have 30% of the patients without a conclusive genetic diagnosis. This is why we hypothesize that by adding the epigenetic component we can improve the genetic diagnosis, and for this we have explored the degree of methylation in the DNA of hypertriglyceridemic patients. Methodology: Blood cell DNA was obtained from 16 hypertriglyceridemic patients and from 16 age- and sex-matched control subjects. The degree of methylation in genome-wide DNA was determined using the Illumina® Infinium Methylation EPIC Array Analysis. Results: We identified 31 differentially methylated cytosines by comparing the methylation patterns presented by hypertriglyceridemic patients vs. control subjects. The cg03636183 in the F2RL3 gene was 10% hypomethylated in hypertriglyceridemic patients, and has previously been associated with an increased cardiovascular risk. Cg13824500 is 10% hypomethylated in hypertriglyceridemic patients and is located in VTI1A, which is a limiting gene in the transit of chylomicrons in the enterocyte through the endoplasmic reticulum and the Golgi apparatus. Cg26468118 in the RAB20 gene (13% hypomethylated) and cg21560722 in the SBF2 gene (33% hypermethylated) are involved in the regulation of Golgi apparatus vesicles. Conclusions: Our results suggest that there are differentially methylated regions related to the formation of chylomicrons in hypertriglyceridemic patients. © 2021 Sociedad Española de Arteriosclerosis
Áreas temáticas: Pharmacology (medical) Peripheral vascular disease Medicina iii Medicina i Cardiology and cardiovascular medicine
Direcció de correo del autor: daiana.ibarretxe@urv.cat nuria.plana@urv.cat josep.ribalta@urv.cat luis.masana@urv.cat montse.guardiola@urv.cat
Identificador del autor: 0000-0002-4231-7618 0000-0002-8879-4719 0000-0002-0789-4954 0000-0002-9696-7384
Fecha de alta del registro: 2023-04-22
Versión del articulo depositado: info:eu-repo/semantics/acceptedVersion
Enlace a la fuente original: https://www.sciencedirect.com/science/article/abs/pii/S0214916821001352?via%3Dihub
URL Documento de licencia: http://repositori.urv.cat/ca/proteccio-de-dades/
Referencia al articulo segun fuente origial: Clinica E Investigacion En Arteriosclerosis. 34 (1): 27-32
Referencia de l'ítem segons les normes APA: Guardiola M; Ibarretxe D; Plana N; Masana L; Ribalta J (2022). DNA methylation pattern of hypertriglyceridemic subjects. [Patrón de metilación en ADN de sujetos hipertrigliceridémicos]. Clinica E Investigacion En Arteriosclerosis, 34(1), 27-32. DOI: 10.1016/j.arteri.2021.09.002
DOI del artículo: 10.1016/j.arteri.2021.09.002
Entidad: Universitat Rovira i Virgili
Año de publicación de la revista: 2022
Tipo de publicación: Journal Publications
Repositori URV