Dataset Information

MACROD2 gene associated with autistic-like traits in a general population sample.

ABSTRACT: There is now substantial evidence that autistic-like traits in the general population lie on a continuum, with clinical autism spectrum disorders (ASD) representing the extreme end of this distribution. In this study, we sought to evaluate five independently identified genetic associations with ASD with autistic-like traits in the general population. In the study cohort, clinical phenotype and genomewide association genotype data were obtained from the Western Australian Pregnancy Cohort (Raine) Study. The outcome measure used was the Autism Spectrum Quotient (AQ), a quantitative measure of autistic-like traits of individuals in the cohort. Total AQ scores were calculated for each individual, as well as scores for three subscales. Five candidate single nucleotide polymorphism (SNP) associations with ASD, reported in previously published genomewide association studies, were selected using a nominal cutoff value of P less than 1.0×10. We tested whether these five SNPs were associated with total AQ and the subscales, after adjustment for possible confounders. SNP rs4141463 located in the macro domain containing 2 (MACROD2) gene was significantly associated with the Communication/Mindreading subscale. No other SNP was significantly associated with total AQ or the subscales. The MACROD2 gene is a strong positional candidate risk factor for autistic-like traits in the general population.

SUBMITTER: Jones RM

PROVIDER: S-EPMC4320645 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature

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MACROD2 gene associated with autistic-like traits in a general population sample.

Jones Rachel M RM Cadby Gemma G Blangero John J Abraham Lawrence J LJ Whitehouse Andrew J O AJO Moses Eric K EK

Psychiatric genetics 20141201 6

There is now substantial evidence that autistic-like traits in the general population lie on a continuum, with clinical autism spectrum disorders (ASD) representing the extreme end of this distribution. In this study, we sought to evaluate five independently identified genetic associations with ASD with autistic-like traits in the general population. In the study cohort, clinical phenotype and genomewide association genotype data were obtained from the Western Australian Pregnancy Cohort (Raine) ...[more]

PMID: 25360606

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Project description:Facial expressions, and the ability to recognize these expressions, have evolved in humans to communicate information to one another. Face masks are equipment used in healthcare by health professionals to prevent the transmission of airborne infections. As part of the social distancing efforts related to COVID-19, wearing facial masks has been practiced globally. Such practice might influence affective information communication among humans. Previous research suggests that masks disrupt expression recognition of some emotions (e.g., fear, sadness or neutrality) and lower the confidence in their identification. To extend the previous research, in the current study we tested a larger and more diverse sample of individuals and also investigated the effect of masks on perceived intensity of expressions. Moreover, for the first time in the literature we examined these questions using individuals with autistic traits. Specifically, across three experiments using different populations (college students and general population), and the 10-item Autism Spectrum Quotient (AQ-10; lower and higher scorers), we tested the effect of facial masks on facial emotion recognition of anger, disgust, fear, happiness, sadness, and neutrality. Results showed that the ability to identify all facial expressions decreased when faces were masked, a finding observed across all three studies, contradicting previous research on fear, sad, and neutral expressions. Participants were also less confident in their judgements for all emotions, supporting previous research; and participants perceived emotions as less expressive in the mask condition compared to the unmasked condition, a finding novel to the literature. An additional novel finding was that participants with higher scores on the AQ-10 were less accurate and less confident overall in facial expression recognition, as well as perceiving expressions as less intense. Our findings reveal that wearing face masks decreases facial expression recognition, confidence in expression identification, as well as the perception of intensity for all expressions, affecting high-scoring AQ-10 individuals more than low-scoring individuals.

Project description:BackgroundTraits and characteristics qualitatively similar to those seen in diagnosed autism spectrum disorder can be found to varying degrees in the general population. To measure these traits and facilitate their use in autism research, several questionnaires have been developed that provide broad measures of autistic traits [e.g. Autism-Spectrum Quotient (AQ), Broad Autism Phenotype Questionnaire (BAPQ)]. However, since their development, our understanding of autism has grown considerably, and it is arguable that existing measures do not provide an ideal representation of the trait dimensions currently associated with autism. Our aim was to create a new measure of autistic traits that reflects our current understanding of autism, the Comprehensive Autism Trait Inventory (CATI).MethodsIn Study 1, 107 pilot items were administered to 1119 individuals in the general population and exploratory factor analysis of responses used to create the 42-item CATI comprising six subscales: Social Interactions, Communication, Social Camouflage, Repetitive Behaviours, Cognitive Rigidity, and Sensory Sensitivity. In Study 2, the CATI was administered to 1068 new individuals and confirmatory factor analysis used to verify the factor structure. The AQ and BAPQ were administered to validate the CATI, and additional autistic participants were recruited to compare the predictive ability of the measures. In Study 3, to validate the CATI subscales, the CATI was administered to 195 new individuals along with existing valid measures qualitatively similar to each CATI subscale.ResultsThe CATI showed convergent validity at both the total-scale (r ≥ .79) and subscale level (r ≥ .68). The CATI also showed superior internal reliability for total-scale scores (α = .95) relative to the AQ (α = .90) and BAPQ (α = .94), consistently high reliability for subscales (α > .81), greater predictive ability for classifying autism (Youden's Index = .62 vs .56-.59), and demonstrated measurement invariance for sex.LimitationsAnalyses of predictive ability for classifying autism depended upon self-reported diagnosis or identification of autism. The autistic sample was not large enough to test measurement invariance of autism diagnosis.ConclusionsThe CATI is a reliable and economical new measure that provides observations across a wide range of trait dimensions associated with autism, potentially precluding the need to administer multiple measures, and to our knowledge, the CATI is also the first broad measure of autistic traits to have dedicated subscales for social camouflage and sensory sensitivity.

Dataset Information

MACROD2 gene associated with autistic-like traits in a general population sample.

Publications

MACROD2 gene associated with autistic-like traits in a general population sample.

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