Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Top Cited Papers
Open Access
- 18 February 2007
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 39 (3) , 319-328
- https://doi.org/10.1038/ng1985
Abstract
Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12–p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.Keywords
This publication has 52 references indexed in Scilit:
- Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disordersNature Genetics, 2006
- Global variation in copy number in the human genomeNature, 2006
- Principal components analysis corrects for stratification in genome-wide association studiesNature Genetics, 2006
- Variance Calculations for Identity-by-Descent EstimationAmerican Journal of Human Genetics, 2006
- Evidence for Sex-Specific Risk Alleles in Autism Spectrum DisorderAmerican Journal of Human Genetics, 2004
- Developmental expression of glutamate transporters and glutamate dehydrogenase in astrocytes of the postnatal rat hippocampusHippocampus, 2004
- Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autismNature Genetics, 2003
- Correcting for multiple analyses in genomewide linkage studiesAnnals of Human Genetics, 2001
- The broad autism phenotype: A complementary strategy for molecular genetic studies of autismAmerican Journal of Medical Genetics, 2001
- Genetic dissection of complex traits: guidelines for interpreting and reporting linkage resultsNature Genetics, 1995