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Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder

Overview of attention for article published in Molecular Autism, January 2016
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3 tweeters

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Title
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder
Published in
Molecular Autism, January 2016
DOI 10.1186/s13229-016-0087-7
Pubmed ID
Authors

Chia-Lin Yin, Hsin-I Chen, Ling-Hui Li, Yi-Ling Chien, Hsiao-Mei Liao, Miao Chun Chou, Wen-Jiun Chou, Wen-Che Tsai, Yen-Nan Chiu, Yu-Yu Wu, Chen-Zen Lo, Jer-Yuarn Wu, Yuan-Tsong Chen, Susan Shur-Fen Gau

Abstract

Autism spectrum disorder (ASD) is an early-onset neurodevelopmental disorder with complex genetic underpinning in its etiology. Copy number variations (CNVs) as one of the genetic factors associated with ASD have been addressed in recent genome-wide association studies (GWAS). However, the significance of CNV has not been well investigated in non-Caucasian ASD population. To identify the pathogenic CNVs responsible for ASD in Han Chinese, we performed a segment-based GWAS of CNV in 335 ASD cases and 1093 healthy controls using Affymetrix single nucleotide polymorphism (SNP) array by focusing on case-specific CNVs. PARK2 was one of the important genes with several case-specific regions overlapped on it. The findings were validated in the initial screen sample set and replicated in another sample set by real-time quantitative PCR (qPCR). A total of six CNVs at 6q26 that spanned different exons of PARK2 were identified. The PARK2 expression level was down-regulated at exon-dependent manner in cases with either deletion or duplication. The result revealed that the gene function might be disrupted by exonic deletion and duplication. We also observed that the ASD case with exonic duplication demonstrated a more severe interference of PARK2 expression and the clinical feature than the ones with deletion at the exons 2-4 of the PARK2 gene. Our finding provides evidence to support that CNVs affecting PARK2 function might contribute to genetic etiology of a proportion of cases with ASD. The intriguing results of this work warrant further study on characterizing the functional impact of various exonic CNVs on the PARK2 gene. ClinicalTrials.gov NCT00494754.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 102 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Hong Kong 1 <1%
Taiwan 1 <1%
Unknown 100 98%

Demographic breakdown

Readers by professional status Count As %
Student > Master 18 18%
Student > Ph. D. Student 16 16%
Researcher 14 14%
Student > Bachelor 10 10%
Student > Doctoral Student 9 9%
Other 17 17%
Unknown 18 18%
Readers by discipline Count As %
Medicine and Dentistry 23 23%
Biochemistry, Genetics and Molecular Biology 18 18%
Neuroscience 12 12%
Psychology 11 11%
Agricultural and Biological Sciences 8 8%
Other 9 9%
Unknown 21 21%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 13 April 2016.
All research outputs
#3,680,005
of 7,546,003 outputs
Outputs from Molecular Autism
#256
of 284 outputs
Outputs of similar age
#136,951
of 272,934 outputs
Outputs of similar age from Molecular Autism
#12
of 13 outputs
Altmetric has tracked 7,546,003 research outputs across all sources so far. This one is in the 48th percentile – i.e., 48% of other outputs scored the same or lower than it.
So far Altmetric has tracked 284 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 17.4. This one is in the 7th percentile – i.e., 7% 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 272,934 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 46th percentile – i.e., 46% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 13 others from the same source and published within six weeks on either side of this one. This one is in the 7th percentile – i.e., 7% of its contemporaries scored the same or lower than it.