ANGPTL3 gene variants in subjects with familial combined hyperlipidemia

Abstract Angiopoietin-like 3 (ANGPTL3) plays an important role in lipid metabolism in humans. Loss-of-function variants in ANGPTL3 cause a monogenic disease named familial combined hypolipidemia. However, the potential contribution of ANGPTL3 gene in subjects with familial combined hyperlipidemia (F...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	A. M. Bea, E. Franco-Marín, V. Marco-Benedí, E. Jarauta, I. Gracia-Rubio, A. Cenarro, F. Civeira, I. Lamiquiz-Moneo
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/771bad6f20e14d9dae2854562ef1bad3
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:771bad6f20e14d9dae2854562ef1bad3
record_format	dspace
spelling	oai:doaj.org-article:771bad6f20e14d9dae2854562ef1bad32021-12-02T17:04:34ZANGPTL3 gene variants in subjects with familial combined hyperlipidemia10.1038/s41598-021-86384-y2045-2322https://doaj.org/article/771bad6f20e14d9dae2854562ef1bad32021-03-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-86384-yhttps://doaj.org/toc/2045-2322Abstract Angiopoietin-like 3 (ANGPTL3) plays an important role in lipid metabolism in humans. Loss-of-function variants in ANGPTL3 cause a monogenic disease named familial combined hypolipidemia. However, the potential contribution of ANGPTL3 gene in subjects with familial combined hyperlipidemia (FCHL) has not been studied. For that reason, the aim of this work was to investigate the potential contribution of ANGPTL3 in the aetiology of FCHL by identifying gain-of-function (GOF) genetic variants in the ANGPTL3 gene in FCHL subjects. ANGPTL3 gene was sequenced in 162 unrelated subjects with severe FCHL and 165 normolipemic controls. Pathogenicity of genetic variants was predicted with PredictSNP2 and FruitFly. Frequency of identified variants in FCHL was compared with that of normolipemic controls and that described in the 1000 Genomes Project. No GOF mutations in ANGPTL3 were present in subjects with FCHL. Four variants were identified in FCHL subjects, showing a different frequency from that observed in normolipemic controls: c.607-109T>C, c.607-47_607-46delGT, c.835+41C>A and c.52_60del. This last variant, c.52_60del, is a microRNA associated sequence in the 3′UTR of ANGPTL3, and it was present 2.7 times more frequently in normolipemic controls than in FCHL subjects. Our research shows that no GOF mutations in ANGPTL3 were found in a large group of unrelated subjects with FCHL.A. M. BeaE. Franco-MarínV. Marco-BenedíE. JarautaI. Gracia-RubioA. CenarroF. CiveiraI. Lamiquiz-MoneoNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q A. M. Bea E. Franco-Marín V. Marco-Benedí E. Jarauta I. Gracia-Rubio A. Cenarro F. Civeira I. Lamiquiz-Moneo ANGPTL3 gene variants in subjects with familial combined hyperlipidemia
description	Abstract Angiopoietin-like 3 (ANGPTL3) plays an important role in lipid metabolism in humans. Loss-of-function variants in ANGPTL3 cause a monogenic disease named familial combined hypolipidemia. However, the potential contribution of ANGPTL3 gene in subjects with familial combined hyperlipidemia (FCHL) has not been studied. For that reason, the aim of this work was to investigate the potential contribution of ANGPTL3 in the aetiology of FCHL by identifying gain-of-function (GOF) genetic variants in the ANGPTL3 gene in FCHL subjects. ANGPTL3 gene was sequenced in 162 unrelated subjects with severe FCHL and 165 normolipemic controls. Pathogenicity of genetic variants was predicted with PredictSNP2 and FruitFly. Frequency of identified variants in FCHL was compared with that of normolipemic controls and that described in the 1000 Genomes Project. No GOF mutations in ANGPTL3 were present in subjects with FCHL. Four variants were identified in FCHL subjects, showing a different frequency from that observed in normolipemic controls: c.607-109T>C, c.607-47_607-46delGT, c.835+41C>A and c.52_60del. This last variant, c.52_60del, is a microRNA associated sequence in the 3′UTR of ANGPTL3, and it was present 2.7 times more frequently in normolipemic controls than in FCHL subjects. Our research shows that no GOF mutations in ANGPTL3 were found in a large group of unrelated subjects with FCHL.
format	article
author	A. M. Bea E. Franco-Marín V. Marco-Benedí E. Jarauta I. Gracia-Rubio A. Cenarro F. Civeira I. Lamiquiz-Moneo
author_facet	A. M. Bea E. Franco-Marín V. Marco-Benedí E. Jarauta I. Gracia-Rubio A. Cenarro F. Civeira I. Lamiquiz-Moneo
author_sort	A. M. Bea
title	ANGPTL3 gene variants in subjects with familial combined hyperlipidemia
title_short	ANGPTL3 gene variants in subjects with familial combined hyperlipidemia
title_full	ANGPTL3 gene variants in subjects with familial combined hyperlipidemia
title_fullStr	ANGPTL3 gene variants in subjects with familial combined hyperlipidemia
title_full_unstemmed	ANGPTL3 gene variants in subjects with familial combined hyperlipidemia
title_sort	angptl3 gene variants in subjects with familial combined hyperlipidemia
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/771bad6f20e14d9dae2854562ef1bad3
work_keys_str_mv	AT ambea angptl3genevariantsinsubjectswithfamilialcombinedhyperlipidemia AT efrancomarin angptl3genevariantsinsubjectswithfamilialcombinedhyperlipidemia AT vmarcobenedi angptl3genevariantsinsubjectswithfamilialcombinedhyperlipidemia AT ejarauta angptl3genevariantsinsubjectswithfamilialcombinedhyperlipidemia AT igraciarubio angptl3genevariantsinsubjectswithfamilialcombinedhyperlipidemia AT acenarro angptl3genevariantsinsubjectswithfamilialcombinedhyperlipidemia AT fciveira angptl3genevariantsinsubjectswithfamilialcombinedhyperlipidemia AT ilamiquizmoneo angptl3genevariantsinsubjectswithfamilialcombinedhyperlipidemia
_version_	1718381855575638016

ANGPTL3 gene variants in subjects with familial combined hyperlipidemia

Ejemplares similares