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The Arg282Ser missense mutation in APOA5 gene determines a reduction of triglyceride and LDL-cholesterol in children, together with low serum levels of apolipoprotein A-V
BACKGROUND: Apolipoprotein A-V (ApoA-V) is a recognized regulator of plasma triglycerides (TGs), and previous studies have shown associations between variants in APOA5 (apolipoprotein-A5) gene and high TG levels. Recently, a new association between the Arg282Ser missense mutation (rs778114184 G >...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606109/ https://www.ncbi.nlm.nih.gov/pubmed/28927406 http://dx.doi.org/10.1186/s12944-017-0569-4 |
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author | Bertoccini, Laura Sentinelli, Federica Incani, Michela Bailetti, Diego Cimini, Flavia Agata Barchetta, Ilaria Cavallo, Maria Gisella Cossu, Efisio Lenzi, Andrea Loche, Sandro Baroni, Marco Giorgio |
author_facet | Bertoccini, Laura Sentinelli, Federica Incani, Michela Bailetti, Diego Cimini, Flavia Agata Barchetta, Ilaria Cavallo, Maria Gisella Cossu, Efisio Lenzi, Andrea Loche, Sandro Baroni, Marco Giorgio |
author_sort | Bertoccini, Laura |
collection | PubMed |
description | BACKGROUND: Apolipoprotein A-V (ApoA-V) is a recognized regulator of plasma triglycerides (TGs), and previous studies have shown associations between variants in APOA5 (apolipoprotein-A5) gene and high TG levels. Recently, a new association between the Arg282Ser missense mutation (rs778114184 G > T) in APOA5 gene and decreased triglyceride levels has been shown in an adult population from Sardinia. In this study we add further insight into the role of APOA5 by exploring whether this association begins early in life in children, or becomes manifest only in adulthood. We performed the genetic association analysis of APOA5 in a cohort of 925 overweight and obese children and adolescents from Sardinia, Italy, to see if the genetic burden is already at play before modifying risk factors are interacting. RESULTS: We identified 24 heterozygous subjects for the Arg282Ser variant and no homozygous subject. Here we show that the Arg282Ser mutation in APOA5 gene is associated with a significant reduction of TG (−15.5 mg/dl), total (−18.1 mg/dl) and LDL-cholesterol (−14.8 mg/dl) levels in overweight/obese children and adolescents, indicating that indeed this association appears early in life. Also, we observed a significant reduction in serum apoA-V levels in heterozygous children. CONCLUSIONS: Our data clearly show that the Arg282Ser mutation in APOA5 gene determines a reduction of TG, total and LDL-cholesterol and apolipoprotein A-V levels in overweight/obese children and adolescents, demonstrating that this mutation has the power to affect lipid levels already since childhood. |
format | Online Article Text |
id | pubmed-5606109 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-56061092017-09-20 The Arg282Ser missense mutation in APOA5 gene determines a reduction of triglyceride and LDL-cholesterol in children, together with low serum levels of apolipoprotein A-V Bertoccini, Laura Sentinelli, Federica Incani, Michela Bailetti, Diego Cimini, Flavia Agata Barchetta, Ilaria Cavallo, Maria Gisella Cossu, Efisio Lenzi, Andrea Loche, Sandro Baroni, Marco Giorgio Lipids Health Dis Research BACKGROUND: Apolipoprotein A-V (ApoA-V) is a recognized regulator of plasma triglycerides (TGs), and previous studies have shown associations between variants in APOA5 (apolipoprotein-A5) gene and high TG levels. Recently, a new association between the Arg282Ser missense mutation (rs778114184 G > T) in APOA5 gene and decreased triglyceride levels has been shown in an adult population from Sardinia. In this study we add further insight into the role of APOA5 by exploring whether this association begins early in life in children, or becomes manifest only in adulthood. We performed the genetic association analysis of APOA5 in a cohort of 925 overweight and obese children and adolescents from Sardinia, Italy, to see if the genetic burden is already at play before modifying risk factors are interacting. RESULTS: We identified 24 heterozygous subjects for the Arg282Ser variant and no homozygous subject. Here we show that the Arg282Ser mutation in APOA5 gene is associated with a significant reduction of TG (−15.5 mg/dl), total (−18.1 mg/dl) and LDL-cholesterol (−14.8 mg/dl) levels in overweight/obese children and adolescents, indicating that indeed this association appears early in life. Also, we observed a significant reduction in serum apoA-V levels in heterozygous children. CONCLUSIONS: Our data clearly show that the Arg282Ser mutation in APOA5 gene determines a reduction of TG, total and LDL-cholesterol and apolipoprotein A-V levels in overweight/obese children and adolescents, demonstrating that this mutation has the power to affect lipid levels already since childhood. BioMed Central 2017-09-19 /pmc/articles/PMC5606109/ /pubmed/28927406 http://dx.doi.org/10.1186/s12944-017-0569-4 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Bertoccini, Laura Sentinelli, Federica Incani, Michela Bailetti, Diego Cimini, Flavia Agata Barchetta, Ilaria Cavallo, Maria Gisella Cossu, Efisio Lenzi, Andrea Loche, Sandro Baroni, Marco Giorgio The Arg282Ser missense mutation in APOA5 gene determines a reduction of triglyceride and LDL-cholesterol in children, together with low serum levels of apolipoprotein A-V |
title | The Arg282Ser missense mutation in APOA5 gene determines a reduction of triglyceride and LDL-cholesterol in children, together with low serum levels of apolipoprotein A-V |
title_full | The Arg282Ser missense mutation in APOA5 gene determines a reduction of triglyceride and LDL-cholesterol in children, together with low serum levels of apolipoprotein A-V |
title_fullStr | The Arg282Ser missense mutation in APOA5 gene determines a reduction of triglyceride and LDL-cholesterol in children, together with low serum levels of apolipoprotein A-V |
title_full_unstemmed | The Arg282Ser missense mutation in APOA5 gene determines a reduction of triglyceride and LDL-cholesterol in children, together with low serum levels of apolipoprotein A-V |
title_short | The Arg282Ser missense mutation in APOA5 gene determines a reduction of triglyceride and LDL-cholesterol in children, together with low serum levels of apolipoprotein A-V |
title_sort | arg282ser missense mutation in apoa5 gene determines a reduction of triglyceride and ldl-cholesterol in children, together with low serum levels of apolipoprotein a-v |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606109/ https://www.ncbi.nlm.nih.gov/pubmed/28927406 http://dx.doi.org/10.1186/s12944-017-0569-4 |
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