scholarly journals Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

2016 ◽  
Vol 48 (5) ◽  
pp. 552-555 ◽  
Author(s):  
Elise B Robinson ◽  
◽  
Beate St Pourcain ◽  
Verneri Anttila ◽  
Jack A Kosmicki ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
General Population ◽  
Genetic Risk ◽  
Autism Spectrum ◽  
Spectrum Disorders

scholarly journals Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

2015 ◽  
Author(s):  
Elise B Robinson ◽  
Beate St Pourcain ◽  
Verneri Anttila ◽  
Jack Kosmicki ◽  
Brendan Bulik-Sullivan ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
General Population ◽  
Genetic Risk ◽  
Adaptive Functioning ◽  
De Novo ◽  
Neuropsychiatric Symptoms ◽  
Population Based ◽  
Autism Spectrum ◽  
Spectrum Disorders ◽  
Almost All

Almost all genetic risk factors for autism spectrum disorders (ASDs) can be found in the general population, but the effects of that risk are unclear in people not ascertained for neuropsychiatric symptoms. Using several large ASD consortia and population based resources, we find genetic links between ASDs and typical variation in social behavior and adaptive functioning. This finding is evidenced through both inherited and de novo variation, indicating that multiple types of genetic risk for ASDs influence a continuum of behavioral and developmental traits, the severe tail of which can result in an ASD or other neuropsychiatric disorder diagnosis. A continuum model should inform the design and interpretation of studies of neuropsychiatric disease biology.

scholarly journals Possible Endophenotypes in the Search for Genetic Risk Factors in Autism Spectrum Disorders

10.5772/60039 ◽  
2015 ◽  
Author(s):  
Adriana Díaz-Anzaldúa ◽  
Rigoberto Rosendo Gutiérrez ◽  
Alejandro Díaz-Anzaldúa ◽  
José Octavio Hernández Lagunas
Keyword(s):  
Risk Factors ◽  
Autism Spectrum Disorders ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Autism Spectrum ◽  
Spectrum Disorders

scholarly journals Identification of Pathway-Biased and Deleterious Melatonin Receptor Mutants in Autism Spectrum Disorders and in the General Population

PLoS ONE ◽  
2010 ◽  
Vol 5 (7) ◽  
pp. e11495 ◽  
Author(s):  
Pauline Chaste ◽  
Nathalie Clement ◽  
Oriane Mercati ◽  
Jean-Luc Guillaume ◽  
Richard Delorme ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
General Population ◽  
Autism Spectrum ◽  
Melatonin Receptor ◽  
Spectrum Disorders

Parental Interest in a Genetic Risk Assessment Test for Autism Spectrum Disorders

2012 ◽  
Vol 52 (2) ◽  
pp. 139-146 ◽  
Author(s):  
Vivien Narcisa ◽  
Marie Discenza ◽  
Erica Vaccari ◽  
Beth Rosen-Sheidley ◽  
Antonio Y. Hardan ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Autism Spectrum Disorders ◽  
Genetic Risk ◽  
Autism Spectrum ◽  
Genetic Risk Assessment ◽  
Spectrum Disorders ◽  
Parental Interest

Homogeneous Combinations of ASD–ADHD Traits and Their Cognitive and Behavioral Correlates in a Population-Based Sample

2014 ◽  
Vol 21 (9) ◽  
pp. 753-763 ◽  
Author(s):  
Jolanda M. J. van der Meer ◽  
Martijn G. A. Lappenschaar ◽  
Catharina A. Hartman ◽  
Corina U. Greven ◽  
Jan K. Buitelaar ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
General Population ◽  
Cognitive Functioning ◽  
Latent Class ◽  
Population Based ◽  
Autism Spectrum ◽  
Behavioral Correlates ◽  
Visual Spatial ◽  
Latent Class Analyses ◽  
Spectrum Disorders

Objective: Autism Spectrum Disorders (ASD) and ADHD are assumed to be the extreme manifestations of continuous heterogeneous traits that frequently co-occur. This study aims to identify subgroups of children with distinct ASD–ADHD trait profiles in the general population, using measures sensitive across both trait continua, and show how these subgroups differ in cognitive functioning. Method: We examined 378 children (6-13 years) from a population-based sample. Results: Latent class analyses (LCA) detected three concordant classes with low (10.1%), medium (54.2%), or high (13.2%) scores on both traits, and two discordant classes with more ADHD than ASD characteristics (ADHD > ASD, 18.3%) and vice versa (ASD > ADHD, 4.2%). Findings suggest that ASD and ADHD traits usually are strongly related in the unaffected population, and that a minority of children displays atypical discordant trait profiles characterized by differential visual-spatial functioning. Conclusion: This dissociation suggests that heterogeneity in ASD and ADHD is rooted in heterogeneity in the lower unaffected end of the distribution.

scholarly journals Genetic underpinnings of sociability in the general population

2021 ◽  
Author(s):  
Janita Bralten ◽  
Nina R. Mota ◽  
Cornelius J. H. M. Klemann ◽  
Ward De Witte ◽  
Emma Laing ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Autism Spectrum Disorders ◽  
Social Behavior ◽  
General Population ◽  
Autism Spectrum ◽  
Polygenic Risk Score ◽  
Brain Disorders ◽  
Polygenic Risk ◽  
Behavior Outcomes ◽  
Spectrum Disorders

AbstractLevels of sociability are continuously distributed in the general population, and decreased sociability represents an early manifestation of several brain disorders. Here, we investigated the genetic underpinnings of sociability in the population. We performed a genome-wide association study (GWAS) of a sociability score based on four social functioning-related self-report questions from 342,461 adults in the UK Biobank. Subsequently we performed gene-wide and functional follow-up analyses. Robustness analyses were performed in the form of GWAS split-half validation analyses, as well as analyses excluding neuropsychiatric cases. Using genetic correlation analyses as well as polygenic risk score analyses we investigated genetic links of our sociability score to brain disorders and social behavior outcomes. Individuals with autism spectrum disorders, bipolar disorder, depression, and schizophrenia had a lower sociability score. The score was significantly heritable (SNP h2 of 6%). We identified 18 independent loci and 56 gene-wide significant genes, including genes like ARNTL, DRD2, and ELAVL2. Many associated variants are thought to have deleterious effects on gene products and our results were robust. The sociability score showed negative genetic correlations with autism spectrum, disorders, depression, schizophrenia, and two sociability-related traits—loneliness and social anxiety—but not with bipolar disorder or Alzheimer’s disease. Polygenic risk scores of our sociability GWAS were associated with social behavior outcomes within individuals with bipolar disorder and with major depressive disorder. Variation in population sociability scores has a genetic component, which is relevant to several psychiatric disorders. Our findings provide clues towards biological pathways underlying sociability.

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