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Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

Overview of attention for article published in Molecular Autism, May 2017
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (92nd percentile)

Mentioned by

blogs
1 blog
twitter
40 tweeters
facebook
3 Facebook pages
f1000
1 research highlight platform

Citations

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329 Dimensions

Readers on

mendeley
531 Mendeley
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3 CiteULike
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Title
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
Published in
Molecular Autism, May 2017
DOI 10.1186/s13229-017-0137-9
Pubmed ID
Abstract

Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) <1.15). We conducted a large-scale coordinated international collaboration to combine independent genotyping data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls). We observe a GWS locus at 10q24.32 that overlaps several genes including PITX3, which encodes a transcription factor identified as playing a role in neuronal differentiation and CUEDC2 previously reported to be associated with social skills in an independent population cohort. We also observe overlap with regions previously implicated in schizophrenia which was further supported by a strong genetic correlation between these disorders (Rg = 0.23; P = 9 × 10(-6)). We further combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12 novel GWS loci. These include loci previously implicated in ASD such as FOXP1 at 3p13, ATP2B2 at 3p25.3, and a 'neurodevelopmental hub' on chromosome 8p11.23. This study is an important step in the ongoing endeavour to identify the loci which underpin the common variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental-related genes such as EXT1, ASTN2, MACROD2, and HDAC4.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 531 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Finland 1 <1%
United States 1 <1%
France 1 <1%
Unknown 528 99%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 113 21%
Researcher 85 16%
Student > Master 69 13%
Student > Bachelor 50 9%
Other 29 5%
Other 93 18%
Unknown 92 17%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 103 19%
Neuroscience 77 15%
Agricultural and Biological Sciences 72 14%
Medicine and Dentistry 58 11%
Psychology 46 9%
Other 45 8%
Unknown 130 24%

Attention Score in Context

This research output has an Altmetric Attention Score of 30. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 27 August 2021.
All research outputs
#901,460
of 18,957,622 outputs
Outputs from Molecular Autism
#100
of 606 outputs
Outputs of similar age
#21,766
of 280,047 outputs
Outputs of similar age from Molecular Autism
#1
of 1 outputs
Altmetric has tracked 18,957,622 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 95th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 606 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 29.0. This one has done well, scoring higher than 83% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 280,047 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 92% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them