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Open Access 01-12-2022 | Research

LPL, FNDC5 and PPARγ gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy

Authors: Benedetta Perrone, Paola Ruffo, Samanta Zelasco, Cinzia Giordano, Catia Morelli, Ines Barone, Stefania Catalano, Sebastiano Andò, Diego Sisci, Giovanni Tripepi, Corrado Mammì, Daniela Bonofiglio, Francesca Luisa Conforti

Published in: Journal of Translational Medicine | Issue 1/2022

Abstract

Background

Plasma lipid profile and anthropometric variables are known to be under strong genetic control and the identification of genetic variants associated with bioclinical parameters is of considerable public health importance. In this study, a young cohort of healthy individuals was genotyped for genes related to health and pathological conditions, to analyze the association of single nucleotide polymorphisms (SNPs) with different bioclinical parameters, adherence to the Mediterranean Diet (MD) and physical activity, studying the role of lifestyle and body composition parameters on biochemical metabolic profile.

Methods

Association analysis of single variants in the genes of lipoprotein lipase (LPL), fibronectin type III domain containing protein 5 (FNDC5), and peroxisome proliferator-activated receptor-gamma (PPARγ) and haplotype analyses were performed.

Results

Multiple (n = 14) common variants in the three genes demonstrated a significant effect on plasma lipoprotein-lipid levels and/or on biochemical parameters in our sample. Specifically, SNPs were related to lipid metabolism (rs3866471, rs4922115, rs11570892, rs248, rs316, rs1059507, rs1801282) or glycemic profile (rs3208305) or anthropometric parameters (rs3480, rs726344, rs1570569) for a total of 26 significant associations (P < 0.01 and/or P < 0.05) and two haplotypes, for the first time, were strongly associated with lipid and body composition parameters. Interestingly, we identified twenty-four new variants not previously described in the literature and a novel significant association between rs80143795 and body composition.

Conclusions

In this study we confirm the association between these SNPs on lipid metabolism and body parameters also in a young cohort, indicating the important role of these genetic factors as determinants of health.

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Title: LPL, FNDC5 and PPARγ gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy
Authors: Benedetta Perrone
Paola Ruffo
Samanta Zelasco
Cinzia Giordano
Catia Morelli
Ines Barone
Stefania Catalano
Sebastiano Andò
Diego Sisci
Giovanni Tripepi
Corrado Mammì
Daniela Bonofiglio
Francesca Luisa Conforti
Publication date: 01-12-2022
Publisher: BioMed Central
Published in: Journal of Translational Medicine / Issue 1/2022
Electronic ISSN: 1479-5876
DOI: https://doi.org/10.1186/s12967-022-03314-w

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