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Linkage and candidate gene studies of autism spectrum disorders in European populations

Overview of attention for article published in European Journal of Human Genetics, May 2010
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Title
Linkage and candidate gene studies of autism spectrum disorders in European populations
Published in
European Journal of Human Genetics, May 2010
DOI 10.1038/ejhg.2010.69
Pubmed ID
Authors

Richard Holt, Gabrielle Barnby, Elena Maestrini, Elena Bacchelli, Denise Brocklebank, Inês Sousa, Erik J Mulder, Katri Kantojärvi, Irma Järvelä, Sabine M Klauck, Fritz Poustka, Anthony J Bailey, Anthony P Monaco

Abstract

Over the past decade, research on the genetic variants underlying susceptibility to autism and autism spectrum disorders (ASDs) has focused on linkage and candidate gene studies. This research has implicated various chromosomal loci and genes. Candidate gene studies have proven to be particularly intractable, with many studies failing to replicate previously reported associations. In this paper, we investigate previously implicated genomic regions for a role in ASD susceptibility, using four cohorts of European ancestry. Initially, a 384 SNP Illumina GoldenGate array was used to examine linkage at six previously implicated loci. We identify linkage approaching genome-wide suggestive levels on chromosome 2 (rs2885116, MLOD=1.89). Association analysis showed significant associations in MKL2 with ASD (rs756472, P=4.31 x 10(-5)) and between SND1 and strict autism (rs1881084, P=7.76 x 10(-5)) in the Finnish and Northern Dutch populations, respectively. Subsequently, we used a second 384 SNP Illumina GoldenGate array to examine the association in seven candidate genes, and evidence for association was found in RELN (rs362780, P=0.00165). Further increasing the sample size strengthened the association with RELN (rs362780, P=0.001) and produced a second significant result in GRIK2 (rs2518261, P=0.008). Our results strengthen the case for a more detailed study of the role of RELN and GRIK2 in autism susceptibility, as well as identifying two new potential candidate genes, MKL2 and SND1.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 90 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 2 2%
United States 2 2%
Italy 1 1%
Brazil 1 1%
Unknown 84 93%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 16 18%
Researcher 16 18%
Student > Master 11 12%
Student > Bachelor 7 8%
Professor 5 6%
Other 22 24%
Unknown 13 14%
Readers by discipline Count As %
Agricultural and Biological Sciences 21 23%
Biochemistry, Genetics and Molecular Biology 16 18%
Medicine and Dentistry 15 17%
Neuroscience 10 11%
Psychology 4 4%
Other 8 9%
Unknown 16 18%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 30 December 2019.
All research outputs
#7,451,942
of 22,782,096 outputs
Outputs from European Journal of Human Genetics
#1,768
of 3,432 outputs
Outputs of similar age
#34,345
of 95,094 outputs
Outputs of similar age from European Journal of Human Genetics
#6
of 23 outputs
Altmetric has tracked 22,782,096 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,432 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 9.8. This one is in the 29th percentile – i.e., 29% of its peers scored the same or lower than it.
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 95,094 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 23rd percentile – i.e., 23% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 23 others from the same source and published within six weeks on either side of this one. This one is in the 26th percentile – i.e., 26% of its contemporaries scored the same or lower than it.