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Vol. 34. Issue 1.
Pages 27-32 (January - February 2022)
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Vol. 34. Issue 1.
Pages 27-32 (January - February 2022)
Original article
DNA methylation pattern of hypertriglyceridemic subjects
Patrón de metilación en ADN de sujetos hipertrigliceridémicos
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Montse Guardiolaa,b,c,
Corresponding author
montse.guardiola@urv.cat

Corresponding author.
, Daiana Ibarretxea,b,c,d, Núria Planaa,b,c,d, Lluís Masanaa,b,c,d, Josep Ribaltaa,b,c
a Unitat de Recerca en Lípids i Arteriosclerosi, Departament de Medicina i Cirurgia, Universitat Rovira i Virgili, Reus, Tarragona, Spain
b Institut d'Investigació Sanitària Pere Virgili, Reus, Tarragona, Spain
c Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas, Madrid, Spain
d Unitat de Medicina Vascular i del Metabolisme, Hospital Universitari Sant Joan de Reus, Reus, Tarragona, Spain
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Tables (3)
Table 1. Baseline anthropometric and biochemical characteristics of the participants.
Table 2. Differentially hypermethylated cytokines in hypertriglyceridaemic patients compared to normolipaemic subjects.
Table 3. Differentially hypomethylated cytokines in hypertriglyceridaemic patients compared to normolipaemic subjects.
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Abstract
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.

Keywords:
DNA methylation
Epigenome
Triglycerides
Resumen
Antecedentes

Las quilomicronemias generalmente se diagnostican genéticamente mediante secuenciación genómica o screening de mutaciones en genes causales con un gran efecto fenotípico. Esta estrategia ha permitido mejorar la caracterización de estos pacientes, pero aún tenemos un 30% de los pacientes sin un diagnóstico genético concluyente. Es por esto que hipotetizamos que añadiendo el componente epigenético podemos mejorar el diagnóstico genético y para ello hemos explorado el grado metilación en el DNA de pacientes hipertrigliceridémicos.

Metodología

El DNA de células sanguíneas fue obtenido de 16 pacientes hipertrigliceridémicos y de 16 sujetos control apareados por edad y sexo. El grado de metilación en el DNA de todo el genoma fue determinado mediante el Illumina Infinium Methylation EPIC Array Analysis.

Resultados

Identificamos 31 citosinas diferencialmente metiladas al comparar los patrones de metilación que presentaban los pacientes hipertrigliceridémicos vs los sujetos control. La cg03636183 en el gen F2RL3 estaba un 10% hipometilada en los pacientes hipertrigliceridémicos, y ha sido previamente asociada a un mayor riesgo cardiovascular. La cg13824500 está un 10% hipometilada en pacientes hipertrigliceridémicos y se localiza en VTI1A que es un gen limitante en el tránsito de los quilomicrones en el enterocito a través del retículo endoplásmico y el aparato de Golgi. La cg26468118 en el gen RAB20 (13% hipometilada) y la cg21560722 en el gen SBF2 (33% hipermetilada) están implicadas en la regulación de vesículas del aparato de Golgi.

Conclusiones

Nuestros resultados sugieren que existen regiones diferencialmente metiladas relacionadas con la formación de los quilomicrones en pacientes hipertrigliceridémicos.

Palabras clave:
Metilación ADN
Epigenoma
Triglicéridos

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