Source:http://linkedlifedata.com/resource/pubmed/id/14699429
Switch to
Predicate | Object |
---|---|
rdf:type | |
lifeskim:mentions |
umls-concept:C0004352,
umls-concept:C0008651,
umls-concept:C0008669,
umls-concept:C0015576,
umls-concept:C0183683,
umls-concept:C0332120,
umls-concept:C0344211,
umls-concept:C0600104,
umls-concept:C0796345,
umls-concept:C0919453,
umls-concept:C1171411,
umls-concept:C1317973,
umls-concept:C1515021,
umls-concept:C1521721
|
pubmed:issue |
2
|
pubmed:dateCreated |
2004-2-17
|
pubmed:abstractText |
Although there is considerable evidence for a strong genetic component to idiopathic autism, several genome-wide screens for susceptibility genes have been carried out with limited concordance of linked loci, reflecting numerous genes of weak effect and/or sample heterogeneity. In the current study, linkage analysis was carried out in a sample of 62 autism-affected relative pairs with more severe obsessive-compulsive behaviors, selected from a larger (n=115) set of autism-affected relative pairs as a means of reducing sample heterogeneity. Obsessive-compulsive behaviors were assessed using the Autism Diagnostic Interview-Revised (ADI-R). In the sample with more severe obsessive-compulsive behaviors, multipoint NPL scores above 2 were observed on chromosomes 1, 4, 5, 6, 10, 11 and 19, with the strongest evidence for linkage on chromosome 1 at the marker D1S1656, where the multipoint NPL score was 3.06, and the two-point NPL score was 3.21. In follow-up analyses, analyzing the subset of families (n=35) where the patients had the most severe obsessive-compulsive behaviors generated a multipoint NPL score of 2.76, and a two-point NPL score of 2.79, indicating that the bulk of evidence for linkage was derived from the families most severely affected with obsessive-compulsive behaviors. The data suggest that there is an autism susceptibility gene on chromosome 1 and provide further support for the presence of autism susceptibility genes on chromosomes 6 and 19.
|
pubmed:grant | |
pubmed:language |
eng
|
pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:month |
Feb
|
pubmed:issn |
1359-4184
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
9
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
144-50
|
pubmed:dateRevised |
2010-11-18
|
pubmed:meshHeading |
pubmed-meshheading:14699429-Autistic Disorder,
pubmed-meshheading:14699429-Chromosomes, Human,
pubmed-meshheading:14699429-Chromosomes, Human, Pair 1,
pubmed-meshheading:14699429-Chromosomes, Human, Pair 19,
pubmed-meshheading:14699429-Chromosomes, Human, Pair 6,
pubmed-meshheading:14699429-Family Health,
pubmed-meshheading:14699429-Genetic Linkage,
pubmed-meshheading:14699429-Genetic Markers,
pubmed-meshheading:14699429-Genetic Predisposition to Disease,
pubmed-meshheading:14699429-Humans,
pubmed-meshheading:14699429-Obsessive-Compulsive Disorder
|
pubmed:year |
2004
|
pubmed:articleTitle |
Linkage analysis for autism in a subset families with obsessive-compulsive behaviors: evidence for an autism susceptibility gene on chromosome 1 and further support for susceptibility genes on chromosome 6 and 19.
|
pubmed:affiliation |
Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA. Joseph.Buxbaum@mssm.edu
|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|