Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complex
Open accessAbstract
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.”
From Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism (2011) · cites this paper as Gao et al., 2010
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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
- Publisher
- Public Library of Science (PLoS)
- Published
- 2010-04-21
- Volume
- 5
- Issue
- 4
- Pages
- e10292
- ISSN
- 1932-6203 (ISSN-L)
- PMC
- PMC2858212
- 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
- gold
- doi.org
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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