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. 2001 Sep;69(3):570-81.
doi: 10.1086/323264. Epub 2001 Jul 30.

A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p

International Molecular Genetic Study of Autism Consortium (IMGSAC)

A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p

International Molecular Genetic Study of Autism Consortium (IMGSAC). Am J Hum Genet. 2001 Sep.

Abstract

Autism is characterized by impairments in reciprocal communication and social interaction and by repetitive and stereotyped patterns of activities and interests. Evidence for a strong underlying genetic predisposition comes from twin and family studies, although susceptibility genes have not yet been identified. A whole-genome screen for linkage, using 83 sib pairs with autism, has been completed, and 119 markers have been genotyped in 13 candidate regions in a further 69 sib pairs. The addition of new families and markers provides further support for previous reports of linkages on chromosomes 7q and 16p. Two new regions of linkage have also been identified on chromosomes 2q and 17q. The most significant finding was a multipoint maximum LOD score (MLS) of 3.74 at marker D2S2188 on chromosome 2; this MLS increased to 4.80 when only sib pairs fulfilling strict diagnostic criteria were included. The susceptibility region on chromosome 7 was the next most significant, generating a multipoint MLS of 3.20 at marker D7S477. Chromosome 16 generated a multipoint MLS of 2.93 at D16S3102, whereas chromosome 17 generated a multipoint MLS of 2.34 at HTTINT2. With the addition of new families, there was no increased allele sharing at a number of other loci originally showing some evidence of linkage. These results support the continuing collection of multiplex sib-pair families to identify autism-susceptibility genes.

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Figures

Figure 1
Figure 1
Multipoint maps across all chromosomes, from pter to qter, generated by ASPEX under an additive model with no dominance variance. The position of markers attaining a maximum MLS >1.5 are shown as triangles and have been typed in 152 sib pairs.
Figure 2
Figure 2
Multipoint maps generated in ASPEX for sib pairs analyzed by case type. The yellow line represents the multipoint MLS for case type 1/type 1 pairs (43), the blue line represents type 1/type 2 pairs (84), and the red line represents strict criteria pairs (127). The black line represents the total multipoint MLS for 152 sib pairs. Blue triangles represent markers typed in 83 sib pairs, and pink triangles represent markers typed in 152 sib pairs. Distances are approximate, in haldane M, from pter to qter.
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References

Electronic-Database Information

    1. Applied Biosystems, http://www.appliedbiosystems.com/
    1. ASPEX program, ftp://lahmed.stanford.edu/pub/aspex
    1. Genome Database, http://www.gdb.org/
    1. IMGSAC, http://www.well.ox.ac.uk/~maestrin/iat.html
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for autism [MIM 209850] and Rubinstein-Taybi syndrome [MIM 180849])

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