A genome-wide linkage and association scan reveals novel loci for autism

Lauren A. Weiss and Dan E. Arking
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Lauren A. Weiss: Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA.
Dan E. Arking: Center for Complex Disease Genomics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21205, USA.

Nature, 2009, vol. 461, issue 7265, 802-808

Abstract: Scanning for links to autism Autism is a highly heritable neurodevelopmental disorder, and yet very few specific susceptibility genes have been identified to date. A genome-wide scan using half a million genome-wide SNPs (single nucleotide polymorphisms) in a common set of 1,031 multiplex autism families has now revealed significant linkage and association to autism. The linkage regions identified provide targets for rare variation screening while the discovery of a single novel association, between SEMA5A and TAS2R1 on chromosome 5p15. The expression of SEMA5A was found to be reduced in brains from autistic patients, further confirmation that it is an autism susceptibility gene.

Date: 2009
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DOI: 10.1038/nature08490

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