Fulltext:
169730.pdf
Embargo:
until further notice
Size:
148.4Kb
Format:
PDF
Description:
Publisher’s version
Publication year
2017Author(s)
Source
Autism Research, 10, 2, (2017), pp. 202-211ISSN
Publication type
Article / Letter to editor
Display more detailsDisplay less details
Organization
Psychiatry
Human Genetics
PI Group Memory & Emotion
Cognitive Neuroscience
Journal title
Autism Research
Volume
vol. 10
Issue
iss. 2
Page start
p. 202
Page end
p. 211
Subject
Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical NeuroscienceAbstract
Common variants contribute significantly to the genetics of autism spectrum disorder (ASD), although the identification of individual risk polymorphisms remains still elusive due to their small effect sizes and limited sample sizes available for association studies. During the last decade several genome-wide association studies (GWAS) have enabled the detection of a few plausible risk variants. The three main studies are family-based and pointed at SEMA5A (rs10513025), MACROD2 (rs4141463) and MSNP1 (rs4307059). In our study we attempted to replicate these GWAS hits using a case-control association study in five European populations of ASD patients and gender-matched controls, all Caucasians. Results showed no association of individual variants with ASD in any of the population groups considered or in the combined European sample. We performed a meta-analysis study across five European populations for rs10513025 (1,904 ASD cases and 2,674 controls), seven European populations for rs4141463 (2,855 ASD cases and 36,177 controls) and five European populations for rs4307059 (2,347 ASD cases and 2,764 controls). The results showed an odds ratio (OR) of 1.05 (95% CI = 0.84-1.32) for rs10513025, 1.0002 (95% CI = 0.93-1.08) for rs4141463 and 1.01 (95% CI = 0.92-1.1) for rs4307059, with no significant P-values (rs10513025, P = 0.73; rs4141463, P = 0.95; rs4307059, P = 0.9). No association was found when we considered either only high functioning autism (HFA), genders separately or only multiplex families. Ongoing GWAS projects with larger ASD cohorts will contribute to clarify the role of common variation in the disorder and will likely identify risk variants of modest effect not detected previously. Autism Res 2017, 10: 202-211. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
This item appears in the following Collection(s)
- Academic publications [238441]
- Donders Centre for Cognitive Neuroimaging [3824]
- Electronic publications [122508]
- Faculty of Medical Sciences [90373]
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.