Evidence map›Paper›PMID 41219721›Full record

ArticleBMC genomics2025

Variability of transposable elements in six genetic isolates from North-Eastern Italy and their relationship with alcohol consumption, tobacco use and BMI.

Giorgia Modenini, Giacomo Mercuri, Paolo Abondio, Giuseppe Giovanni Nardone, Aurora Santin, Paola Tesolin, Beatrice Spedicati, Alessandro Pecori, Giulia Pianigiani, Maria Pina Concas and 4 more

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Article in BMC genomics, 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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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

14 authors.

Giorgia Modenini *Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy.
Giacomo Mercuri *Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.
Paolo AbondioDepartment of Biology, University of Rome Tor Vergata, Rome, Italy.
Giuseppe Giovanni NardoneDepartment of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
Aurora SantinDepartment of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
Paola TesolinInstitute for Maternal and Child Health - IRCCS, "Burlo Garofolo", Trieste, Italy.
Beatrice SpedicatiDepartment of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
Alessandro PecoriInstitute for Maternal and Child Health - IRCCS, "Burlo Garofolo", Trieste, Italy.
Giulia PianigianiInstitute for Maternal and Child Health - IRCCS, "Burlo Garofolo", Trieste, Italy.
Maria Pina ConcasInstitute for Maternal and Child Health - IRCCS, "Burlo Garofolo", Trieste, Italy.
Giorgia GirottoInstitute for Maternal and Child Health - IRCCS, "Burlo Garofolo", Trieste, Italy.
Paolo GaspariniInstitute for Maternal and Child Health - IRCCS, "Burlo Garofolo", Trieste, Italy.
Alessio Boattini *BiGeA Department, University of Bologna, Bologna, Italy.
Massimo Mezzavilla *Department of Biology, University of Padua, Padua, Italy. massimo.mezzavilla@unipd.it.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHalf of the human genome is derived from Transposable Elements (TEs), among which Alu, LINE-1 and SVA are particularly represented. Germline transposition of TEs generates polymorphisms between individuals and may be used to study association with phenotypes and inter-individual differences. Italy presents an increased number of isolated villages compared to other European groups, and these isolates provide a desirable study subject to help understanding the genetic variability of the Italian peninsula. Therefore, we focused on the relationship between polymorphic TEs, behavioral traits (tobacco use and alcohol consumption), and Body Mass Index (BMI) variations, which could lead to an increased risk of developing addiction-related or metabolic diseases.

resultsWe identified 12,709 polymorphic TEs in 586 individuals from six isolates: classical population genetics analyses showed that while closely related to other European populations, the isolates tend to cluster amongst themselves and are dominated by drift-induced ancestral components. Several TEs in constrained genes were also significantly related with behavioral traits (tobacco use or alcohol consumption) or with BMI variations and some of them have a functional role.

conclusionsThese results suggest that polymorphic TEs may significantly impact inter-individual and inter-population phenotypic differentiation, while also functioning as variability markers and potentially having a role in susceptibility to medical conditions.

Indexed as

Alcohol DrinkingBody Mass IndexDNA Transposable ElementsGenetic VariationTobacco UseFemaleGenetics, PopulationHumansItalyMalePolymorphism, GeneticDNA Transposable ElementsBehavioral traitsConstrained genesGenetic isolatesPolymorphic transposable elements

Identifiers

PMID41219721
PMCPMC12607106

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