Cited by 42Williams Syndrome ResearchGenetics and Neurodevelopmental DisordersCognitive Abilities and Testing

Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complex

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Gao, Michael C., Bellugi, Ursula, Dai, Li, Mills, Debra L., Sobel, Eric M., Lange, Kenneth, Korenberg, Julie R.·2010·PLoS ONE

Abstract

Although genetics is the most significant known determinant of human intelligence, specific gene contributions remain largely unknown. To accelerate understanding in this area, we have taken a new approach by studying the relationship between quantitative gene expression and intelligence in a cohort of 65 patients with Williams Syndrome (WS), a neurodevelopmental disorder caused by a 1.5 Mb deletion on chromosome 7q11.23. We find that variation in the transcript levels of the brain gene STX1A correlates significantly with intelligence in WS patients measured by principal component analysis (PCA) of standardized WAIS-R subtests, r = 0.40 (Pearson correlation, Bonferroni corrected p-value = 0.007), accounting for 15.6% of the cognitive variation. These results suggest that syntaxin 1A, a neuronal regulator of presynaptic vesicle release, may play a role in WS and be a component of the cellular pathway determining human intelligence.

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  • Several lines of evidence have identified CLIP2, LIMK1, GTF2i, and STX1A as leading candidate genes among the 22 genes in the 7q11.23 region for cognitive and social phenotypes.

    “have already identified CAPGLY domain containing linker protein 2 (CLIP2), LIM domain kinase 1 (LIMK1), General transcription factor II, i (GTF2i), and Syntaxin 1A (STX1A) as the leading candidates among the 22 genes within the region for involvement in the cognitive and social phenotypes.”

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Authors
Gao, M. C., Bellugi, U., Dai, L., Mills, D. L., Sobel, E. M., Lange, K., & Korenberg, J. R.
Affiliations
  • Cedars-Sinai Medical Center (US)
  • University of Utah (US)
  • Bangor University (GB)
  • University of California, Los Angeles (US)
Corresponding author
Korenberg, Julie R.
Venue
PLoS ONE
Published
2010-04-21
Volume
5
Issue
4
Pages
e10292
ISSN
1932-6203 (ISSN-L)
OpenAlex
W1965521081
Cited by
42
References
45
Citations by year
2024: 1 · 2023: 2 · 2022: 8 · 2021: 2 · 2020: 5 · 2018: 3 · 2017: 2 · 2016: 4 · 2015: 2 · 2013: 2 · 2012: 3
FWCI
1.32
Type
journal article
Language
en
Open access
Locations
  • PLoS ONE (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • RePEc: Research Papers in Economics (submittedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
  • eScholarship (California Digital Library) (submittedVersion)
  • Figshare (submittedVersion, cc-by)
Funders
  • Utah Science Technology and Research
  • National Institute of Child Health and Human Development
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (P01 HD 33113, P01HD033113)
Topics
  • Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Social Sciences › Psychology › Experimental and Cognitive Psychology › Cognitive Abilities and Testing
Keywords
Williams syndrome, syntaxin 1A, intelligence, gene expression, chromosome 7q11.23 deletion, neurodevelopmental disorders, synaptic vesicle release, cognitive variation
MeSH terms
Adult, Female, Humans, Intelligence, Male, RNA, Messenger, Cohort Studies, Gene Expression, Presynaptic Terminals, Williams Syndrome, Principal Component Analysis, SNARE Proteins, Syntaxin 1

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