Evidence map›Paper›PMID 28927406›Full record

ArticleLipids in health and disease2017

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.

Laura Bertoccini, Federica Sentinelli, Michela Incani, Diego Bailetti, Flavia Agata Cimini, Ilaria Barchetta, Maria Gisella Cavallo, Efisio Cossu, Andrea Lenzi, Sandro Loche and 1 more

Open access · goldAbstract read
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In one paragraph

Article in Lipids in health and disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.5field-weighted citation impact, top 30% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 5 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 5 institutions in 1 country.

Laura BertocciniDepartment of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I, 00161, Rome, Italy.
Federica SentinelliDepartment of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I, 00161, Rome, Italy.
Michela IncaniEndocrinology and Diabetes, Department of Medical Sciences, University of Cagliari, Cagliari, Italy.
Diego BailettiDepartment of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I, 00161, Rome, Italy.
Flavia Agata CiminiDepartment of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I, 00161, Rome, Italy.
Ilaria BarchettaDepartment of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I, 00161, Rome, Italy.
Maria Gisella CavalloDepartment of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I, 00161, Rome, Italy.
Efisio CossuEndocrinology and Diabetes, Department of Medical Sciences, University of Cagliari, Cagliari, Italy.
Andrea LenziDepartment of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I, 00161, Rome, Italy.
Sandro LochePediatric Endocrine Unit, Regional Hospital for Microcitemia, Cagliari, Italy.
Marco Giorgio BaroniDepartment of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I, 00161, Rome, Italy. marco.baroni@uniroma1.it.
Policlinico Umberto I · ITSapienza University of Rome · ITUniversity of Cagliari · ITIstituto Neurologico Mediterraneo · ITOspedale Microcitemico · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundApolipoprotein 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.

resultsWe 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.

conclusionsOur 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.

Indexed as

Mutation, MissenseAdolescentAllelesApolipoprotein A-VChildCholesterol, HDLCholesterol, LDLCohort StudiesFemaleGene ExpressionGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseHeterozygoteHumansMaleAPOA5 protein, humanApolipoprotein A-VCholesterol, HDLCholesterol, LDLTriglyceridesAPOA5 variantApolipoproteinsChildrenLipidsObesityTriglycerides

Identifiers

PMID28927406
PMCPMC5606109
OpenAlexW2755638257

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.