ArticleJournal of neurodevelopmental disorders2011
Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism.
Article in Journal of neurodevelopmental disorders, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- The role of rare compound heterozygous events in autism spectrum disorder.Translational psychiatry · 2020Article
- A gene expression signature in developing Purkinje cells predicts autism and intellectual disability co-morbidity status.Scientific reports · 2019Article
- Calculating the statistical significance of rare variants causal for Mendelian and complex disorders.BMC medical genomics · 2018Article
- A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees.Journal of neurodevelopmental disorders · 2018Article
- Common functional variants of the glutamatergic system in Autism spectrum disorder with high and low intellectual abilities.Journal of neural transmission (Vienna, Austria : 1996) · 2018Article
- Article
- Genetics and genomics of autism spectrum disorder: embracing complexity.Human molecular genetics · 2015Review
- A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?Biological psychiatry · 2015Article
- Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.Human genetics · 2015Article
- Common EIF4E variants modulate risk for autism spectrum disorders in the high-functioning range.Journal of neural transmission (Vienna, Austria : 1996) · 2014Article
- Revisiting schizophrenia linkage data in the NIMH Repository: reanalysis of regularized data across multiple studies.The American journal of psychiatry · 2014Article
- Individual common variants exert weak effects on the risk for autism spectrum disorders.Human molecular genetics · 2012Article
- Evaluation of a bayesian model integration-based method for censored data.Human heredity · 2012Article
- miRNA-mediated risk for schizophrenia in 22q11.2 deletion syndrome.Frontiers in genetics · 2012Article
- Mood disorders in mothers of children on the autism spectrum are associated with higher functioning autism.Autism research and treatment · 2012Article
- Identification of genetic loci underlying the phenotypic constructs of autism spectrum disorders.Journal of the American Academy of Child and Adolescent Psychiatry · 2011Article
- KELVIN: a software package for rigorous measurement of statistical evidence in human genetics.Human heredity · 2011Article
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
The Autism Genome Project has assembled two large datasets originally designed for linkage analysis and genome-wide association analysis, respectively: 1,069 multiplex families genotyped on the Affymetrix 10 K platform, and 1,129 autism trios genotyped on the Illumina 1 M platform. We set out to exploit this unique pair of resources by analyzing the combined data with a novel statistical method, based on the PPL statistical framework, simultaneously searching for linkage and association to loci involved in autism spectrum disorders (ASD). Our analysis also allowed for potential differences in genetic architecture for ASD in the presence or absence of lower IQ, an important clinical indicator of ASD subtypes. We found strong evidence of multiple linked loci; however, association evidence implicating specific genes was low even under the linkage peaks. Distinct loci were found in the lower IQ families, and these families showed stronger and more numerous linkage peaks, while the normal IQ group yielded the strongest association evidence. It appears that presence/absence of lower IQ (LIQ) demarcates more genetically homogeneous subgroups of ASD patients, with not just different sets of loci acting in the two groups, but possibly distinct genetic architecture between them, such that the LIQ group involves more major gene effects (amenable to linkage mapping), while the normal IQ group potentially involves more common alleles with lower penetrances. The possibility of distinct genetic architecture across subtypes of ASD has implications for further research and perhaps for research approaches to other complex disorders as well.
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