A genome-wide linkage and association scan reveals novel loci for autism.
Citation:
Weiss LA, Arking DE, The Gene Discovery project of Johns Hopkins & the Austism Consortium, A genome-wide linkage and association scan reveals novel loci for autism. , Nature, 461, 7265, 2009, 802 - 808Download Item:
Abstract:
Although autism is a highly heritable neurodevelopmental disorder, attempts to identify specific
susceptibility genes have thus far met with limited success 1. Genome-wide association studies
(GWAS) using half a million or more markers, particularly those with very large sample sizes
achieved through meta-analysis, have shown great success in mapping genes for other complex
genetic traits (http://www.genome.gov/26525384). Consequently, we initiated a linkage and
association mapping study using half a million genome-wide SNPs in a common set of 1,031
multiplex autism families (1,553 affected offspring). We identified regions of suggestive and
significant linkage on chromosomes 6q27 and 20p13, respectively. Initial analysis did not yield
genome-wide significant associations; however, genotyping of top hits in additional families revealed
a SNP on chromosome 5p15 (between SEMA5A and TAS2R1) that was significantly associated with
autism (P = 2 ? 10?7). We also demonstrated that expression of SEMA5A is reduced in brains from
autistic patients, further implicating SEMA5A as an autism susceptibility gene. The linkage regions
reported here provide targets for rare variation screening while the discovery of a single novel
association demonstrates the action of common variants.
Author's Homepage:
http://people.tcd.ie/mgillhttp://people.tcd.ie/lgallagh
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Author: GILL, MICHAEL; GALLAGHER, LOUISE
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NatureType of material:
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Nature;461;
7265;
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