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

Scanning for links to autismAutism 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.