First Risk Genes Identified for Attention Deficit Hyperactivity Disorder: An international collaboration has for the fi rst time identifi ed genetic variants that increase the risk of ADHD

2019 ◽  
Vol 179 (3) ◽  
pp. 334-335
2019 ◽  
Author(s):  
Paula Rovira ◽  
Ditte Demontis ◽  
Cristina Sánchez-Mora ◽  
Tetyana Zayats ◽  
Marieke Klein ◽  
...  

AbstractAttention deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder characterized by age-inappropriate symptoms of inattention, impulsivity and hyperactivity that persist into adulthood in the majority of the diagnosed children. Despite several risk factors during childhood predicting the persistence of ADHD symptoms into adulthood, the genetic architecture underlying the trajectory of ADHD over time is still unclear. We set out to study the contribution of common genetic variants to the risk for ADHD across the lifespan by conducting meta-analyses of genome-wide association studies on persistent ADHD in adults and ADHD in childhood separately and comparing the genetic background between them in a total sample of 17,149 cases and 32,411 controls. Our results show nine new independent loci and support a shared contribution of common genetic variants to ADHD in children and adults. No subgroup heterogeneity was observed among children, while this group consists of future remitting and persistent individuals. We report similar patterns of genetic correlation of ADHD with other ADHD-related datasets and different traits and disorders among adults, children and when combining both groups. These findings confirm that persistent ADHD in adults is a neurodevelopmental disorder and extend the existing hypothesis of a shared genetic architecture underlying ADHD and different traits to a lifespan perspective.


2005 ◽  
Vol 77 (6) ◽  
pp. 958-965 ◽  
Author(s):  
Ziarih Hawi ◽  
Ricardo Segurado ◽  
Judith Conroy ◽  
Karen Sheehan ◽  
Naomi Lowe ◽  
...  

2020 ◽  
Vol 11 (14) ◽  
pp. 2094-2103
Author(s):  
Wafaa Moustafa M. Abo El Fotoh ◽  
Noha Rabie Bayomy ◽  
Zeinab A. Kasemy ◽  
Ahmed Moustafa Barain ◽  
Basma Mofed Shalaby ◽  
...  

2020 ◽  
Author(s):  
Holly K. Harris ◽  
Tojo Nakayama ◽  
Jenny Lai ◽  
Boxun Zhao ◽  
Nikoleta Argyrou ◽  
...  

Purpose: We describe a novel neurobehavioral syndrome of autism spectrum disorder, intellectual disability, and attention deficit/hyperactivity disorder associated with de novo or inherited deleterious variants in members of the RFX family of genes. RFX genes are evolutionarily conserved transcription factors that act as master regulators of central nervous system development and ciliogenesis. Methods: We assembled a cohort of 36 individuals (from 31 unrelated families) with de novo mutations in RFX3, RFX4, and RFX7. We describe their common clinical phenotypes and present bioinformatic analyses of expression patterns and downstream targets of these genes as they relate to other neurodevelopmental risk genes. Results: These individuals share neurobehavioral features including autism spectrum disorder (ASD), intellectual disability, and attention-deficit/hyperactivity disorder (ADHD); other frequent features include hypersensitivity to sensory stimuli and sleep problems. RFX3, RFX4, and RFX7 are strongly expressed in developing and adult human brain, and X-box binding motifs as well as RFX ChIP-seq peaks are enriched in the cis-regulatory regions of known ASD risk genes. Conclusion: These results establish deleterious variation in RFX3, RFX4, and RFX7 as important causes of monogenic intellectual disability, ADHD and ASD, and position these genes as potentially critical transcriptional regulators of neurobiological pathways associated with neurodevelopmental disease pathogenesis.


2010 ◽  
Vol 20 (2) ◽  
pp. 73-81 ◽  
Author(s):  
Christina A. Markunas ◽  
Kaia S. Quinn ◽  
Ann L. Collins ◽  
Melanie E. Garrett ◽  
Ave M. Lachiewicz ◽  
...  

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