2026-04-17T06:08:49Zhttps://recercat.cat/oai/request

oai:recercat.cat:2072/4760072025-10-13T11:46:09Zcom_2072_98col_2072_378192

00925njm 22002777a 4500 dc Carreras-Gallo, Natàlia author Cáceres, Alejandro author Balagué-Dobón, Laura author Ruiz-Arenas, Carlos author Andrusaityte, Sandra author Carracedo, Ángel author Casas, Maribel author Chatzi, Leda author Grazuleviciene, Regina author Gutzkow, Kristine Bjerve author Lepeule, Johanna author Maitre, Léa author Nieuwenhuijsen, Mark author Slama, Remy author Stratakis, Nikos author Thomsen, Cathrine author Urquiza, Jose author Wright, John author Yang, Tiffany author Escaramís, Geòrgia author Bustamante, Mariona author Vrijheid, Martine author Pérez-Jurado, Luis Alberto author González, Juan Ramón author 2022 Polymorphic genomic inversions are chromosomal variants with intrinsic variability that play important roles in evolution, environmental adaptation, and complex traits. We investigated the DNA methylation patterns of three common human inversions, at 8p23.1, 16p11.2, and 17q21.31 in 1,009 blood samples from children from the Human Early Life Exposome (HELIX) project and in 39 prenatal heart tissue samples. We found inversion-state specific methylation patterns within and nearby flanking each inversion region in both datasets. Additionally, numerous inversion-exposure interactions on methylation levels were identified from early-life exposome data comprising 64 exposures. For instance, children homozygous at inv-8p23.1 and higher meat intake were more susceptible to TDH hypermethylation (P = 3.8 × 10 -22); being the inversion, exposure, and gene known risk factors for adult obesity. Inv-8p23.1 associated hypermethylation of GATA4 was also detected across numerous exposures. Our data suggests that the pleiotropic influence of inversions during development and lifetime could be substantially mediated by allele-specific methylation patterns which can be modulated by the exposome. Analysis of the relationship between presence of common DNA sequence inversions and DNA methylation patterns suggests a role for environmental exposures (such as food intake) in mediating inversion state-specific methylation patterns. DNA methylation Genetic interaction Risk factors The early-life exposome modulates the effect of polymorphic inversions on DNA methylation