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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Autism Researcharrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Autism Research
Article . 2009 . Peer-reviewed
License: Wiley Online Library User Agreement
Data sources: Crossref
Autism Research
Article . 2009
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Genes related to sex steroids, neural growth, and social–emotional behavior are associated with autistic traits, empathy, and Asperger syndrome

Authors: Lindsey Kent; Simon Baron-Cohen; Grant A. Hill-Cawthorne; Frank Dudbridge; Bhismadev Chakrabarti; Sally Wheelwright; Catherine Allison; +1 Authors

Genes related to sex steroids, neural growth, and social–emotional behavior are associated with autistic traits, empathy, and Asperger syndrome

Abstract

AbstractGenetic studies of autism spectrum conditions (ASC) have mostly focused on the “low functioning” severe clinical subgroup, treating it as a rare disorder. However, ASC is now thought to be relatively common (∼1%), and representing one end of a quasi‐normal distribution of autistic traits in the general population. Here we report a study of common genetic variation in candidate genes associated with autistic traits and Asperger syndrome (AS). We tested single nucleotide polymorphisms in 68 candidate genes in three functional groups (sex steroid synthesis/transport, neural connectivity, and social–emotional responsivity) in two experiments. These were (a) an association study of relevant behavioral traits (the Empathy Quotient (EQ), the Autism Spectrum Quotient (AQ)) in a population sample (n=349); and (b) a case–control association study on a sample of people with AS, a “high‐functioning” subgroup of ASC (n=174). 27 genes showed a nominally significant association with autistic traits and/or ASC diagnosis. Of these, 19 genes showed nominally significant association with AQ/EQ. In the sex steroid group, this included ESR2 and CYP11B1. In the neural connectivity group, this included HOXA1, NTRK1, and NLGN4X. In the socio‐responsivity behavior group, this included MAOB, AVPR1B, and WFS1. Fourteen genes showed nominally significant association with AS. In the sex steroid group, this included CYP17A1 and CYP19A1. In the socio‐emotional behavior group, this included OXT. Six genes were nominally associated in both experiments, providing a partial replication. Eleven genes survived family wise error rate (FWER) correction using permutations across both experiments, which is greater than would be expected by chance. CYP11B1 and NTRK1 emerged as significantly associated genes in both experiments, after FWER correction (P<0.05). This is the first candidate‐gene association study of AS and of autistic traits. The most promising candidate genes require independent replication and fine mapping.

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Keywords

Homeodomain Proteins, Cell Adhesion Molecules, Neuronal, Genetic Variation, Membrane Proteins, Steroid 17-alpha-Hydroxylase, Polymorphism, Single Nucleotide, Affect, Aromatase, Social Perception, Humans, Steroid 11-beta-Hydroxylase, Asperger Syndrome, Autistic Disorder, Empathy, Nerve Net, Receptor, trkA, Carrier Proteins, Social Behavior, Monoamine Oxidase, Transcription Factors

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
260
Top 1%
Top 1%
Top 1%