Evidence map›Paper›PMID 41096884›Full record

ArticleInternational journal of molecular sciences2025

Missense Variants in Nutrition-Related Genes: A Computational Study.

Giovanni Maria De Filippis, Maria Monticelli, Bruno Hay Mele, Viola Calabrò

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Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

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4 authors.

Giovanni Maria De FilippisDepartment of Electrical Engineering and Information Technology, University of Naples Federico II, Naples, via Claudio 21, 80125 Napoli, Italy.ORCID 0009-0002-8395-0724
Maria MonticelliBiology Department, University of Naples Federico II, Complesso Universitario Monte Sant'Angelo, Via Cinthia, 80126 Napoli, Italy.ORCID 0000-0003-3136-2138
Bruno Hay MeleBiology Department, University of Naples Federico II, Complesso Universitario Monte Sant'Angelo, Via Cinthia, 80126 Napoli, Italy.ORCID 0000-0001-5579-183X
Viola CalabròBiology Department, University of Naples Federico II, Complesso Universitario Monte Sant'Angelo, Via Cinthia, 80126 Napoli, Italy.ORCID 0000-0002-6508-8889

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic variants in nutrition-related genes exhibit variable functional consequences; however, systematic characterization across different nutritional domains remains limited. This highlights the need for detailed exploration of variant distribution and functional effects across nutritional gene categories. Therefore, the main objective of this computational study is to delve deeper into the distribution and functional impact of missense variants in nutrition-related genes. We analyzed Genetic polymoRphism variants using Personalized Medicine (GRPM) dataset, focusing on ten groups of nutrition-related genes. Missense variants were characterized using ProtVar for functional/structural impact, Pharos for functional classification, network analysis for pathway identification, and Gene Ontology enrichment for biological process annotation. The analysis of 63,581 Single Nucleotide Polymorphisms (SNP) revealed 27,683 missense variants across 1589 genes. Food intolerance (0.23) and food allergy (0.15) groups showed the highest missense/SNP ratio, while obesity-related genes showed the lowest (0.04). Enzymes predominated in xenobiotic and vitamin metabolism groups, while G-protein-coupled receptors were enriched in eating behavior genes. The vitamin metabolism group had the highest proportion of pathogenic variants. Network analysis identified apolipoproteins as central hubs in metabolic groups and inflammatory proteins in allergy-related groups. These findings offer insights into personalized nutrition approaches and underscore the utility of computational variant analysis in elucidating gene-diet interactions.

Indexed as

Computational BiologyMutation, MissenseFood HypersensitivityHumansPolymorphism, Single NucleotidePrecision Medicinedata augmentationMeSH ontologynutrigeneticsPPI networksvariant effect prediction

Identifiers

PMID41096884
PMCPMC12525056

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