Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2008-7-1
pubmed:abstractText
The norepinephrine (NE) transporter (NET) is responsible for the re-uptake of NE into presynaptic nerve terminals, thus critically regulating noradrenergic signaling and homeostasis. Since NE signaling contributes to diverse brain functions, we hypothesize that promoter variation within the human NET gene (solute carrier family 6, member 2; SLC6A2) may impact risk for NE-related disorders, including depression, attention deficit hyperactive disorder (ADHD), and autonomic dysfunction. In support of this, we recently found a functional polymorphism at -3081 position upstream of the transcription initiation site. This polymorphism displayed differential promoter function, which we showed could arise from recruitment of a transcriptional repressor. Further analyses identified Slug and Scratch as candidates involved in repression of SLC6A2 transcription generated by the -3081(T) allele. Moreover, we observed a significant association of the -3081(T) variant with ADHD. Altered transcription of SLC6A2 may therefore represent a novel risk factor for the development of ADHD.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0077-8923
pubmed:author
pubmed:issnType
Print
pubmed:volume
1129
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
256-60
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Functional gene variation in the human norepinephrine transporter: association with attention deficit hyperactivity disorder.
pubmed:affiliation
Molecular Neurobiology Laboratory, McLean Hospital, Harvard Medical School, 115 Mill St., Belmont, MA 02478, USA. kskim@mclean.harvard.edu
pubmed:publicationType
Journal Article, Review, Research Support, N.I.H., Extramural