Literature DB >> 32462456

Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families.

Sonja LaBianca1,2, Jette LaBianca3, Anne Katrine Pagsberg4, Klaus Damgaard Jakobsen5, Vivek Appadurai6,7, Alfonso Buil6,7, Thomas Werge6,7.   

Abstract

Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are highly heritable neurodevelopmental disorders that frequently co-occur. Both rare and common genetic variants are important for ASD and ADHD risk but their combined contribution to clinical heterogeneity is unclear. In a sample of 39 ASD and/or ADHD families we estimated the overall variance explained by known rare copy number variants (CNVs) and polygenic risk score (PRS) from common variants to be 10% in comorbid ASD/ADHD, 4% in ASD and 2% in ADHD. We show that burden of large, rare CNVs and PRS is significantly higher in adult ASD and/or ADHD patients with sustained need for specialist care compared to their unaffected relatives, while affected relatives fall in-between the two.

Entities:  

Keywords:  Attention deficit/hyperactivity disorder; Autism spectrum disorder; Comorbidity; Copy number variants; Families; Polygenic risk score

Mesh：

Year:  2021        PMID： 32462456     DOI： 10.1007/s10803-020-04552-x

Source DB:  PubMed          Journal:  J Autism Dev Disord        ISSN： 0162-3257


  47 in total

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Journal:  Cold Spring Harb Protoc       Date:  2010-05

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Review 3.  New ethical issues for genetic counseling in common mental disorders.

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4.  Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.

Authors:  Ditte Demontis; Raymond K Walters; Joanna Martin; Manuel Mattheisen; Thomas D Als; Esben Agerbo; Gísli Baldursson; Rich Belliveau; Jonas Bybjerg-Grauholm; Marie Bækvad-Hansen; Felecia Cerrato; Kimberly Chambert; Claire Churchhouse; Ashley Dumont; Nicholas Eriksson; Michael Gandal; Jacqueline I Goldstein; Katrina L Grasby; Jakob Grove; Olafur O Gudmundsson; Christine S Hansen; Mads Engel Hauberg; Mads V Hollegaard; Daniel P Howrigan; Hailiang Huang; Julian B Maller; Alicia R Martin; Nicholas G Martin; Jennifer Moran; Jonatan Pallesen; Duncan S Palmer; Carsten Bøcker Pedersen; Marianne Giørtz Pedersen; Timothy Poterba; Jesper Buchhave Poulsen; Stephan Ripke; Elise B Robinson; F Kyle Satterstrom; Hreinn Stefansson; Christine Stevens; Patrick Turley; G Bragi Walters; Hyejung Won; Margaret J Wright; Ole A Andreassen; Philip Asherson; Christie L Burton; Dorret I Boomsma; Bru Cormand; Søren Dalsgaard; Barbara Franke; Joel Gelernter; Daniel Geschwind; Hakon Hakonarson; Jan Haavik; Henry R Kranzler; Jonna Kuntsi; Kate Langley; Klaus-Peter Lesch; Christel Middeldorp; Andreas Reif; Luis Augusto Rohde; Panos Roussos; Russell Schachar; Pamela Sklar; Edmund J S Sonuga-Barke; Patrick F Sullivan; Anita Thapar; Joyce Y Tung; Irwin D Waldman; Sarah E Medland; Kari Stefansson; Merete Nordentoft; David M Hougaard; Thomas Werge; Ole Mors; Preben Bo Mortensen; Mark J Daly; Stephen V Faraone; Anders D Børglum; Benjamin M Neale
Journal:  Nat Genet       Date:  2018-11-26       Impact factor: 38.330

5.  A copy number variation morbidity map of developmental delay.

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Journal:  Nat Genet       Date:  2011-08-14       Impact factor: 38.330

6.  Relative burden of large CNVs on a range of neurodevelopmental phenotypes.

Authors:  Santhosh Girirajan; Zoran Brkanac; Bradley P Coe; Carl Baker; Laura Vives; Tiffany H Vu; Neil Shafer; Raphael Bernier; Giovanni B Ferrero; Margherita Silengo; Stephen T Warren; Carlos S Moreno; Marco Fichera; Corrado Romano; Wendy H Raskind; Evan E Eichler
Journal:  PLoS Genet       Date:  2011-11-10       Impact factor: 5.917

7.  PRSice: Polygenic Risk Score software.

Authors:  Jack Euesden; Cathryn M Lewis; Paul F O'Reilly
Journal:  Bioinformatics       Date:  2014-12-29       Impact factor: 6.937

8.  The familial co-aggregation of ASD and ADHD: a register-based cohort study.

Authors:  L Ghirardi; I Brikell; R Kuja-Halkola; C M Freitag; B Franke; P Asherson; P Lichtenstein; H Larsson
Journal:  Mol Psychiatry       Date:  2017-02-28       Impact factor: 15.992

9.  Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

Authors:  Santhosh Girirajan; Megan Y Dennis; Carl Baker; Maika Malig; Bradley P Coe; Catarina D Campbell; Kenneth Mark; Tiffany H Vu; Can Alkan; Ze Cheng; Leslie G Biesecker; Raphael Bernier; Evan E Eichler
Journal:  Am J Hum Genet       Date:  2013-01-31       Impact factor: 11.025

10.  Global increases in both common and rare copy number load associated with autism.

Authors:  Santhosh Girirajan; Rebecca L Johnson; Flora Tassone; Jorune Balciuniene; Neerja Katiyar; Keolu Fox; Carl Baker; Abhinaya Srikanth; Kian Hui Yeoh; Su Jen Khoo; Therese B Nauth; Robin Hansen; Marylyn Ritchie; Irva Hertz-Picciotto; Evan E Eichler; Isaac N Pessah; Scott B Selleck
Journal:  Hum Mol Genet       Date:  2013-03-27       Impact factor: 6.150
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  1 in total

Review 1.  Genetics in the ADHD Clinic: How Can Genetic Testing Support the Current Clinical Practice?

Authors:  Lívia Balogh; Attila J Pulay; János M Réthelyi
Journal:  Front Psychol       Date:  2022-03-08
  1 in total

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