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Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study.

Journal article
Authors Anne Philippe
Maria Martinez
Michel Guilloud-Bataille
Christopher Gillberg
Maria Råstam
Elli Sponheim
Mary Coleman
Michele Zapella
Harald Aschauer
Lionel van Maldergem
Penet Christiane
Josue Feingold
Alexis Brice
Marion Leboyer
Published in Human Molecular Genetics
Volume 8
Issue 5
Pages 805-812
ISSN 0964-6906
Publication year 1999
Published at Institute for the Health of Women and Children, Dept of Child and Adolescent Psychiatry
Pages 805-812
Language en
Keywords Adolescent, Adult, Autistic Disorder, Genetics, Child, Child, Preschool, Chromosomes, Human, Female, Genetic Linkage, Genetic Markers, Genetic Predisposition to Disease, Humans, Male, Pedigree
Subject categories Medical and Health Sciences, Psychiatry, Child and adolescent psychiatry


Family and twin studies have suggested a genetic component in autism. We performed a genome-wide screen with 264 microsatellites markers in 51 multiplex families, using non-parametric linkage methods. Families were recruited by a collaborative group including clinicians from Sweden, France, Norway, the USA, Italy, Austria and Belgium. Using two-point and multipoint affected sib-pair analyses, 11 regions gave nominal P-values of 0.05 or lower. Four of these regions overlapped with regions on chromosomes 2q, 7q, 16p and 19p identified by the first genome-wide scan of autism performed by the International Molecular Genetic Study of Autism Consortium. Another of our potential susceptibility regions overlapped with the 15q11–q13 region identified in previous candidate gene studies. Our study revealed six additional regions on chromosomes 4q, 5p, 6q, 10q, 18q and Xp. We found that the most significant multipoint linkage was close to marker D6S283 (maximum lod score = 2.23, P= 0.0013)

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