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MACROD2 gene associated with autistic-like traits in a general population sample
Rachel M Jones1,2, Gemma Cadby1, John Blangero3
1Centre for Genetic Origins of Health and Disease, Telethon Institute for Child Health Research, University of Western Australia, Perth, Australia.
Psychiatric Genetics
|November 1, 2014
Summary
Genetic variants linked to autism spectrum disorder (ASD) were examined for autistic-like traits in the general population. The MACROD2 gene SNP rs4141463 showed a significant association with communication and mindreading abilities.
Area of Science:
- Genetics
- Neuroscience
- Developmental Psychology
Background:
- Autistic-like traits exist on a continuum in the general population, with Autism Spectrum Disorders (ASD) at the extreme end.
- Previous genomewide association studies have identified genetic associations with ASD.
Purpose of the Study:
- To investigate whether five previously identified genetic associations with ASD are also associated with autistic-like traits in the general population.
- To examine the relationship between specific single nucleotide polymorphisms (SNPs) and quantitative measures of autistic-like traits.
Main Methods:
- Utilized data from the Western Australian Pregnancy Cohort (Raine) Study, including clinical phenotype and genotype data.
- Assessed autistic-like traits using the Autism Spectrum Quotient (AQ) and its subscales.
- Tested five candidate SNPs for association with total AQ scores and subscale scores, adjusting for confounders.
Main Results:
- SNP rs4141463, located in the MACROD2 gene, was significantly associated with the Communication/Mindreading subscale of the AQ.
- No other tested SNPs showed a significant association with total AQ or its subscales.
Conclusions:
- The MACROD2 gene is a potential candidate risk factor for autistic-like traits in the general population.
- This finding contributes to understanding the genetic underpinnings of autistic traits beyond clinical diagnoses.
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