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2023-01-26

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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/197327

Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains

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https://doi.org/10.1038/s41588-022-01285-8
 https://doi.org/10.1038/s41588-023-01350-w

Resum

Attention-deficit hyperactivity disorder (ADHD) is a prevalent neurodevelopmental disorder with a major genetic component. Here, we present a genome-wide association study meta-analysis of ADHD comprising 38,691 individuals with ADHD and 186,843 controls. We identified 27 genome-wide significant loci, highlighting 76 potential risk genes enriched among genes expressed particularly in early brain development. Overall, ADHD genetic risk was associated with several brain-specific neuronal subtypes and midbrain dopaminergic neurons. In exome-sequencing data from 17,896 individuals, we identified an increased load of rare protein-truncating variants in ADHD for a set of risk genes enriched with probable causal common variants, potentially implicating SORCS3 in ADHD by both common and rare variants. Bivariate Gaussian mixture modeling estimated that 84-98% of ADHD-influencing variants are shared with other psychiatric disorders. In addition, common-variant ADHD risk was associated with impaired complex cognition such as verbal reasoning and a range of executive functions, including attention.

Matèries

Trastorns per dèficit d'atenció amb hiperactivitat en els adults, Genètica

Matèries (anglès)

Attention deficit disorder with hyperactivity in adults, Genetics

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Articles publicats en revistes (Genètica, Microbiologia i Estadística)

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DEMONTIS, Dittie, WALTERS, G. bragi, ATHANASIADIS, Georgios, WALTERS, Raymond, THERRIEN, Karen, FARAJZADEH, Leila, VOLOUDAKIS, Georgios, BENDL, Jaroslav, ZENG, Biau, ZHANG, Wen, GROVE, Jakob, ALS, Thomas d., DUAN, Jinjie, SATTERSTROM, F.kyle, BYBJERG GRAUHOLM, Jonas, BÆKVED HANSEN, Marie, GUDMUNDSSON, Olafur o., MAGNUSSON, Sigurdur h., BALDURSSON, Gisli, DAVIDSDOTTIR, Katrin, HARALDSDOTTIR, Gyda s., NIELSEN, Trine tollerup, AGERBO, Esben, HOFFMAN, Gabriel e., DALSGAARD, S., MARTIN, Joanna, RIBASÉS HARO, Marta, BOOMSMA, Dorret i., SOLER ARTIGAS, María, ROTH MOTA, Nina, HOWRIGAN, Daniel, MEDLAND, Sarah e., ZAYATS, Tetyana, ADHD Working Group of the Psychiatric Genomics Consortium, iPSYCH-Broad Consortium, NORDENTOFT, Merete, MORS, Ole, HOUGAARD, David m., MORTENSEN, Preben bo, CORMAND, Bru. Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains. _Nature Genetics_. 2023. Vol. 55, núm. 198-208. [consulta: 8 de gener de 2026]. ISSN: 1061-4036. [Disponible a: https://hdl.handle.net/2445/197327]

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