| Autor: |
W. van Mechelen, Patrizia Rizzu, Danielle Posthuma, Thais S. Rizzi, Matthijs Verhage, Erik A. Sistermans, Jan Berend Deijen, Gea Beunders, J.W.R. Twisk, Peter Heutink, Hanne Meijers-Heijboer |
| Rok vydání: |
2012 |
| Předmět: |
|
| Zdroj: |
Genes, Brain and Behavior. 11:767-771 |
| ISSN: |
1601-1848 |
| Popis: |
Intellectual disability (ID) is an unresolved health care problem with a worldwide prevalence rate of 2–3%. For many years, research into the genetic causes of ID and related disorders has mainly focused on chromosomal abnormalities or X-linked genetic deficits. Only a handful of autosomal genes are known to cause ID. At the same time it has been suggested that at least some cases of ID represent an extreme form of normal intellectual ability and therefore that genes important for intellectual ability in the normal range may also play a role in ID. In this study, we tested whether the autosomal SNAP25 gene, which was previously associated with variation in intellectual ability in the normal range, is also associated with ID. The gene product of SNAP25 is an important presynaptic plasma membrane protein, is known to be involved in regulating neurotransmitter release, and has been linked to memory and learning by its effect on long term potentiation in the hippocampus. Allele frequencies of two genetic variants in SNAP25 previously associated with intellectual ability were compared between a group of 636 ID cases (IQ |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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