Linked Life Data

11920155

Source:http://linkedlifedata.com/resource/pubmed/id/11920155

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2002-3-28
pubmed:abstractText
The serotonin transporter gene (SLC6A4, MIM 182138) is a candidate gene in autistic disorder based on neurochemical, neuroendocrine studies and the efficacy of potent serotonin transporter inhibitors in reducing ritualistic behaviors and related aggression. An insertion/deletion polymorphism (5-HTTLPR) in the promoter region and a variable number of tandem repeat polymorphism (VNTR) in the second intron, were previously identified and suggested to modulate transcription. Six previous family-based association studies of SLC6A4 in autistic disorder have been conducted, with four studies showing nominally significant transmission disequilibrium and two studies with no evidence of nominally significant transmission disequilibrium. In the present study, TDT was conducted in 81 new trios. A previous finding of transmission disequilibrium between a haplotype consisting of the 5-HTTLPR and intron 2 VNTR was replicated in this study, but not preferential transmission of 5-HTTLPR as an independent marker. Because of inconsistent transmission of 5-HTTLPR across studies, SLC6A4 and its flanking regions were sequenced in 10 probands, followed by typing of 20 single nucleotide polymorphisms (SNPs) and seven simple sequence repeat (SSR) polymorphisms in 115 autism trios. When individual markers were analyzed by TDT, seven SNP markers and four SSR markers (six SNPs, 5-HTTLPR and the second intron VNTR from promoter 1A through intron 2 of SLC6A4, one SSR from intron 7 of SLC6A4, one SNP from the bleomycin hydrolase gene (BLMH, MIM 602403) and one SSR telomeric to BLMH) showed nominally significant evidence of transmission disequilibrium. Four markers showed stronger evidence of transmission disequilibrium (TDT(max) P = 0.0005) than 5-HTTLPR.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1359-4184
pubmed:author
pubmed:issnType
Print
pubmed:volume
7
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
278-88
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:11920155-Autistic Disorder, pubmed-meshheading:11920155-Base Sequence, pubmed-meshheading:11920155-Carrier Proteins, pubmed-meshheading:11920155-Chromosome Mapping, pubmed-meshheading:11920155-DNA Primers, pubmed-meshheading:11920155-DNA Replication, pubmed-meshheading:11920155-Female, pubmed-meshheading:11920155-Haplotypes, pubmed-meshheading:11920155-Humans, pubmed-meshheading:11920155-Infant, Newborn, pubmed-meshheading:11920155-Linkage Disequilibrium, pubmed-meshheading:11920155-Male, pubmed-meshheading:11920155-Membrane Glycoproteins, pubmed-meshheading:11920155-Membrane Transport Proteins, pubmed-meshheading:11920155-Minisatellite Repeats, pubmed-meshheading:11920155-Nerve Tissue Proteins, pubmed-meshheading:11920155-Polymerase Chain Reaction, pubmed-meshheading:11920155-Serotonin Plasma Membrane Transport Proteins
pubmed:year
2002
pubmed:articleTitle
Transmission disequilibrium mapping at the serotonin transporter gene (SLC6A4) region in autistic disorder.
pubmed:affiliation
Laboratory of Developmental Neuroscience, Child and Adolescent Psychiatry, Department of Psychiatry MC3077, University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't