Cargando…

Intelligence in Williams Syndrome Is Related to STX1A, Which Encodes a Component of the Presynaptic SNARE Complex

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Gao, Michael C., Bellugi, Ursula, Dai, Li, Mills, Debra L., Sobel, Eric M., Lange, Kenneth, Korenberg, Julie R.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2858212/
https://www.ncbi.nlm.nih.gov/pubmed/20422020
http://dx.doi.org/10.1371/journal.pone.0010292
_version_ 1782180409471139840
author Gao, Michael C.
Bellugi, Ursula
Dai, Li
Mills, Debra L.
Sobel, Eric M.
Lange, Kenneth
Korenberg, Julie R.
author_facet Gao, Michael C.
Bellugi, Ursula
Dai, Li
Mills, Debra L.
Sobel, Eric M.
Lange, Kenneth
Korenberg, Julie R.
author_sort Gao, Michael C.
collection PubMed
description 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.
format Text
id pubmed-2858212
institution National Center for Biotechnology Information
language English
publishDate 2010
publisher Public Library of Science
record_format MEDLINE/PubMed
spelling pubmed-28582122010-04-26 Intelligence in Williams Syndrome Is Related to STX1A, Which Encodes a Component of the Presynaptic SNARE Complex Gao, Michael C. Bellugi, Ursula Dai, Li Mills, Debra L. Sobel, Eric M. Lange, Kenneth Korenberg, Julie R. PLoS One Research Article 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. Public Library of Science 2010-04-21 /pmc/articles/PMC2858212/ /pubmed/20422020 http://dx.doi.org/10.1371/journal.pone.0010292 Text en Gao et al. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Gao, Michael C.
Bellugi, Ursula
Dai, Li
Mills, Debra L.
Sobel, Eric M.
Lange, Kenneth
Korenberg, Julie R.
Intelligence in Williams Syndrome Is Related to STX1A, Which Encodes a Component of the Presynaptic SNARE Complex
title Intelligence in Williams Syndrome Is Related to STX1A, Which Encodes a Component of the Presynaptic SNARE Complex
title_full Intelligence in Williams Syndrome Is Related to STX1A, Which Encodes a Component of the Presynaptic SNARE Complex
title_fullStr Intelligence in Williams Syndrome Is Related to STX1A, Which Encodes a Component of the Presynaptic SNARE Complex
title_full_unstemmed Intelligence in Williams Syndrome Is Related to STX1A, Which Encodes a Component of the Presynaptic SNARE Complex
title_short Intelligence in Williams Syndrome Is Related to STX1A, Which Encodes a Component of the Presynaptic SNARE Complex
title_sort intelligence in williams syndrome is related to stx1a, which encodes a component of the presynaptic snare complex
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2858212/
https://www.ncbi.nlm.nih.gov/pubmed/20422020
http://dx.doi.org/10.1371/journal.pone.0010292
work_keys_str_mv AT gaomichaelc intelligenceinwilliamssyndromeisrelatedtostx1awhichencodesacomponentofthepresynapticsnarecomplex
AT bellugiursula intelligenceinwilliamssyndromeisrelatedtostx1awhichencodesacomponentofthepresynapticsnarecomplex
AT daili intelligenceinwilliamssyndromeisrelatedtostx1awhichencodesacomponentofthepresynapticsnarecomplex
AT millsdebral intelligenceinwilliamssyndromeisrelatedtostx1awhichencodesacomponentofthepresynapticsnarecomplex
AT sobelericm intelligenceinwilliamssyndromeisrelatedtostx1awhichencodesacomponentofthepresynapticsnarecomplex
AT langekenneth intelligenceinwilliamssyndromeisrelatedtostx1awhichencodesacomponentofthepresynapticsnarecomplex
AT korenbergjulier intelligenceinwilliamssyndromeisrelatedtostx1awhichencodesacomponentofthepresynapticsnarecomplex