Journal
NATURE
Volume 461, Issue 7265, Pages 802-U62Publisher
NATURE PORTFOLIO
DOI: 10.1038/nature08490
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Funding
- National Center for Research Resources [U54 RR020278]
- National Institutes of Mental Health [MH60007, MH081754]
- Simons Foundation
- Autism Consortium of Boston
- NIMH [1R01 MH083565, 1K23MH080954]
- Nancy Lurie Marks ( NLM) Family Foundation
- National Institute of Health [MH52708, MH39437, MH00219, MH00980, MH6454, MH61009, MH55135, MH55284, HD055782, NS042165]
- National Health Medical Research Council [0034328]
- Scottish Rite
- Spunk Fund, Inc.
- Rebecca and Solomon Baker Fund
- APEX Foundation
- National Alliance for Research in Schizophrenia and Affective Disorders ( NARSAD),
- Nancy Pritzker Laboratory
- Cure Autism Now Foundation
- Fundacao Calouste Gulbenkian
- INSERM, Fondation de France, Fondation Orange
- Fondation pour la Recherche Medicale
- Swedish Science Council
- The Seaver Foundation
- The Children's Medical & Research Foundation
- Our Lady's Children's Hospital, Crumlin, Ireland
- The Medical Research Council ( MRC)
- MRC [G0601030] Funding Source: UKRI
- Medical Research Council [G0601030] Funding Source: researchfish
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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 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. Consequently, we initiated a linkage and association mapping study using half a million genome-wide single nucleotide polymorphisms (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 an SNP on chromosome 5p15 ( between SEMA5A and TAS2R1) that was significantly associated with autism (P = 2 x 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 whereas the discovery of a single novel association demonstrates the action of common variants.
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