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

## TL;DR

This study explores how transposable elements in the genome vary among six isolated Italian villages and their links to behaviors like alcohol and tobacco use, as well as BMI.

## Contribution

The study identifies polymorphic transposable elements in genetic isolates and links them to behavioral traits and BMI, suggesting their role in phenotypic variation and disease susceptibility.

## Key findings

- 12,709 polymorphic transposable elements were identified in 586 individuals from six isolates.
- Several transposable elements in constrained genes were significantly associated with tobacco use, alcohol consumption, or BMI variations.
- The isolates cluster together genetically and show drift-induced ancestral components despite being related to other European populations.

## Abstract

Half 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.

We 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.

These 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.

The online version contains supplementary material available at 10.1186/s12864-025-12225-1.