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PMID: 11452361 Published · ppublish English Journal Article

A genomewide screen for autism susceptibility loci.

American journal of human genetics ·Vol. 69 ·No. 2 ·2001-08-00 ·Pages 327-40

Liu J, Nyholt DR, Magnussen P, Parano E, Pavone P, Geschwind D, Lord C, Iversen P, Hoh J, Ott J, Gilliam TC, Autism Genetic Resource Exchange Consortium

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.

MeSH Terms
Asperger Syndrome/genetics Autistic Disorder/genetics Child Chromosome Mapping Chromosomes, Human, Pair 19/genetics Chromosomes, Human, Pair 5/genetics Developmental Disabilities/genetics Female Genetic Linkage/genetics Genetic Predisposition to Disease/genetics Genetic Testing Genotype Humans Lod Score Male Microsatellite Repeats/genetics Molecular Sequence Data Nuclear Family X Chromosome/genetics
Authors & Affiliations
12 authors, click to expand affiliations / ORCID
Liu J
Columbia Genome Center and Department of Psychiatry, Columbia University, New York, NY 10032, USA.
Nyholt D R
Magnussen P
Parano E
Pavone P
Geschwind D
Lord C
Iversen P
Hoh J
Ott J
Gilliam T C
Autism Genetic Resource Exchange Consortium
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/321980
Published
2001-08-00
Epub
2001-00-10
Pages
327-40
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1235325
Subset
IM
Grants
Telethon · E.0811 · Italy
Databases
OMIM
191100, 209850, 309550
External Links
PubMed source DOI: 10.1086/321980 PMC Full Text View journal details
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