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Placental DNA methylation captures shared and trait-specific genetic susceptibility across complex health conditions

Cilleros Portet, A.; Gonzalez-Moro, I.; Saddiki, H.; Mari, S.; Everson, T.; Hernangomez-Laderas, A.; Broseus, L.; Tost, J.; Cosin-Tomas, M.; Groleau, M.; Czamara, D.; Lozano, M.; Hao, K.; Tuhkanen, J.; Fallin, M. D.; Schmidt, R. J.; Breeze, C. E.; Deleuze, J.-F.; Aguilar-Lacasana, S.; Jacques, P.-E.; Hytti, S.; Irizar, A.; Lahti-Pulkkinen, M.; Bakulski, K. M.; Dou, J.; Lahti, J.; Vrijheid, M.; Raikkonen, K.; Hivert, M.-F.; Sunyer, J.; Heude, B.; lepeule, j.; London, S. J.; Chen, J.; Bustamante, M.; Marsit, C.; Bilbao Catala, J. R.; Lesseur, C.; Fernandez-Jimenez, N.

2026-07-09 genetic and genomic medicine
10.64898/2026.07.07.26357471 medRxiv
Show abstract

The Developmental Origins of Health and Disease (DOHaD) hypothesis proposes that the perinatal environment shapes susceptibility to complex traits across life [1]. The placenta, a transient organ mediating maternal-fetal exchange, plays a central role in this process and has emerged as a key molecular archive in utero [2-4]. Placental DNA methylation (DNAm) is a unique mediator between prenatal exposures, fetal genetics and later-life outcomes [5-9]. DNAm quantitative trait loci (mQTL) have helped disentangling causal mechanisms underlying GWAS loci for complex diseases [10-15]. Despite growing evidence that placental genomic regulation has broad and profound effects on the developmental programming of early- and later-life health outcomes [17], existing placental studies remain limited in scale and largely focused on growth- and neuro-related traits [12-16]. Here, we construct a high-resolution placental mQTL resource and systematically investigate how placental DNAm relates to early- and later-life traits, and to shared vulnerability and complex interactions among them.

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