Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
11452361
TITLE
A genomewide screen for autism susceptibility loci.
ABSTRACT
We report the analysis of 335 microsatellite markers genotyped in 110 multiplex families with autism. All families include at least two "affected" siblings, at least one of whom has autism; the remaining affected sibs carry diagnoses of either Asperger syndrome or pervasive developmental disorder. Affected sib-pair analysis yielded multipoint maximum LOD scores (MLS) that reach the accepted threshold for suggestive linkage on chromosomes 5, X, and 19. Nominal evidence for linkage (point-wise P<.05) was obtained on chromosomes 2, 3, 4, 8, 10, 11, 12, 15, 16, 18, and 20, and secondary loci were found on chromosomes 5 and 19. Analysis of families sharing alleles at the putative X chromosomal linked locus and one or more other putative linked loci produced an MLS of 3.56 for the DXS470-D19S174 marker combination. In an effort to increase power to detect linkage, scan statistics were used to evaluate the significance of peak LOD scores based on statistical evidence at adjacent marker loci. This analysis yielded impressive evidence for linkage to autism and autism-spectrum disorders with significant genomewide P values <.05 for markers on chromosomes 5 and 8 and with suggestive linkage evidence for a marker on chromosome 19.
DATE PUBLISHED
2001 Aug
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 2001/07/14 10:00
medline 2001/08/17 10:01
received 2001/00/16
accepted 2001/00/12
aheadofprint 2001/00/10
entrez 2001/07/14 10:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Liu J Liu J J Columbia Genome Center and Department of Psychiatry, Columbia University, New York, NY 10032, USA.
Nyholt DR Nyholt D R DR
Magnussen P Magnussen P P
Parano E Parano E E
Pavone P Pavone P P
Geschwind D Geschwind D D
Lord C Lord C C
Iversen P Iversen P P
Hoh J Hoh J J
Ott J Ott J J
Gilliam TC Gilliam T C TC
Autism Genetic Resource Exchange Consortium
INVESTIGATORS
JOURNAL
VOLUME: 69
ISSUE: 2
TITLE: American journal of human genetics
ISOABBREVIATION: Am. J. Hum. Genet.
YEAR: 2001
MONTH: Aug
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 0002-9297
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Am J Hum Genet
COUNTRY: United States
ISSNLINKING: 0002-9297
NLMUNIQUEID: 0370475
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
E.0811 Telethon Italy
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Asperger Syndrome genetics
Autistic Disorder genetics
Child genetics
Chromosome Mapping genetics
Chromosomes, Human, Pair 19 genetics
Chromosomes, Human, Pair 5 genetics
Developmental Disabilities genetics
Female genetics
Genetic Linkage genetics
Genetic Predisposition to Disease genetics
Genetic Testing genetics
Genotype genetics
Humans genetics
Lod Score genetics
Male genetics
Microsatellite Repeats genetics
Molecular Sequence Data genetics
Nuclear Family genetics
X Chromosome genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's
OTHERID SOURCE
PMC1235325 NLM
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