Social responsiveness, an autism endophenotype: genomewide significant linkage to two regions on chromosome 8

The American Journal of Psychiatry
Jennifer K LoweDaniel H Geschwind

Abstract

Autism spectrum disorder is characterized by deficits in social function and the presence of repetitive and restrictive behaviors. Following a previous test of principle, the authors adopted a quantitative approach to discovering genes contributing to the broader autism phenotype by using social responsiveness as an endophenotype for autism spectrum disorder. Linkage analyses using scores from the Social Responsiveness Scale were performed in 590 families from the Autism Genetic Resource Exchange, a largely multiplex autism spectrum disorder cohort. Regional and genomewide association analyses were performed to search for common variants contributing to social responsiveness. Social Responsiveness Scale scores were unimodally distributed in male offspring from multiplex autism families, in contrast with a bimodal distribution observed in female offspring. In correlated analyses differing by Social Responsiveness Scale respondent, genomewide significant linkage for social responsiveness was identified at chr8p21.3 (multipoint LOD=4.11; teacher/parent scores) and chr8q24.22 (multipoint LOD=4.54; parent-only scores), respectively. Genomewide or linkage-directed association analyses did not detect common variants contributing to so...Continue Reading

Citations

Sep 26, 2015·Science·Daniel H Geschwind, Jonathan Flint
Apr 7, 2016·Nature Medicine·Luis de la Torre-UbietaDaniel H Geschwind
Jul 30, 2015·Neurobiology of Learning and Memory·E PasciutoC Bagni
Apr 22, 2015·Lancet Neurology·Daniel H Geschwind, Matthew W State
Aug 30, 2016·American Journal of Human Genetics·Virpi M LeppaDaniel H Geschwind
Mar 8, 2017·Autism Research : Official Journal of the International Society for Autism Research·Lauren FranzPetrus J de Vries
May 18, 2017·European Journal of Human Genetics : EJHG·Dina VojinovicNajaf Amin
Jul 1, 2017·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Lisabeth F DiLallaEmma Diaz
Jan 30, 2018·Autism : the International Journal of Research and Practice·Eric RubensteinJulie Daniels
May 15, 2020·Autism Research : Official Journal of the International Society for Autism Research·Kellie GergoudisUNKNOWN Developmental Synaptopathies Consortium
Sep 12, 2019·Communications Biology·Varun WarrierSimon Baron-Cohen
Jan 11, 2017·Journal of Autism and Developmental Disorders·Molly LoshThomas Wassink
May 4, 2017·Journal of Child Psychology and Psychiatry, and Allied Disciplines·Alexandra SturmJames T McCracken
Oct 24, 2018·Journal of Neurodevelopmental Disorders·N MarrusUNKNOWN IBIS Network
Nov 20, 2016·Journal of Child Psychology and Psychiatry, and Allied Disciplines·Emily J H JonesSara J Webb
May 8, 2018·Journal of Autism and Developmental Disorders·Molly B D PriggeBrandon A Zielinski
Sep 19, 2020·Journal of Autism and Developmental Disorders·Kristen LyallUNKNOWN program collaborators for Environmental influences on Child Health Outcomes
Oct 22, 2020·Molecular Autism·Ilaria Minio-PaluelloSimon Baron-Cohen
Feb 27, 2021·Psychological Medicine·A HavdahlV Warrier
Jan 12, 2020·Communications Biology·Varun WarrierSimon Baron-Cohen
Jun 24, 2021·European Neuropsychopharmacology : the Journal of the European College of Neuropsychopharmacology·James T McCrackenUNKNOWN ISCTM/ECNP ASD Working Group
Jul 28, 2021·Human Molecular Genetics·Katherine W Eyring, Daniel H Geschwind
Sep 10, 2021·Psychiatry Investigation·Jeeyoung ChunHee Jeong Yoo

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