A genome-wide linkage and association scan reveals novel loci for autism.
Year: 2009
Type: article
Study design: Observational Study
Abstract: Although autism is a highly heritable neurodevelopmental disorder, attempts to identify specific\nsusceptibility genes have thus far met with limited success 1. Genome-wide association studies\n(GWAS) using half a million or more markers, particularly those with very large sample sizes\nachieved through meta-analysis, have shown great success in mapping genes for other complex\ngenetic traits (http://www.genome.gov/26525384). Consequently, we initiated a linkage and\nassociation mapping study using half a million genome-wide SNPs in a common set of 1,031\nmultiplex autism families (1,553 affected offspring). We identified regions of suggestive and\nsignificant linkage on chromosomes 6q27 and 20p13, respectively. Initial analysis did not yield\ngenome-wide significant associations; however, genotyping of top hits in additional families revealed\na SNP on chromosome 5p15 (between SEMA5A and TAS2R1) that was significantly associated with\nautism (P = 2 ? 10?7). We also demonstrated that expression of SEMA5A is reduced in brains from\nautistic patients, further implicating SEMA5A as an autism susceptibility gene. The linkage regions\nreported here provide targets for rare variation screening while the discovery of a single novel\nassociation demonstrates the action of common variants.
Authors: GILL, MICHAEL, GALLAGHER, LOUISE
Language: English
Subfield: Cognitive Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7047555191