ArticleBiological psychiatry2008
Genome-wide linkage analyses of quantitative and categorical autism subphenotypes.
Article in Biological psychiatry, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
46 citing papers in PubMed, 90 citations in OpenAlex.
- mAutism research : official journal of the International Society for Autism Research · 2025Article
- Unraveling the developmental dynamic of visual exploration of social interactions in autism.eLife · 2024Article
- The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.Journal of medical genetics · 2023Article
- Can the "female protective effect" liability threshold model explain sex differences in autism spectrum disorder?Neuron · 2022Review
- Face individual identity recognition: a potential endophenotype in autism.Molecular autism · 2020Article
- Quantitative genome-wide association study of six phenotypic subdomains identifies novel genome-wide significant variants in autism spectrum disorder.Translational psychiatry · 2020Article
- Associations between parental broader autism phenotype and child autism spectrum disorder phenotype in the Study to Explore Early Development.Autism : the international journal of research and practice · 2019Article
- A gene expression signature in developing Purkinje cells predicts autism and intellectual disability co-morbidity status.Scientific reports · 2019Article
- A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees.Journal of neurodevelopmental disorders · 2018Article
- Broader autism phenotype in parents of children with autism: a systematic review of percentage estimates.Journal of child and family studies · 2018Article
- Combined genome-wide linkage and targeted association analysis of head circumference in autism spectrum disorder families.Journal of neurodevelopmental disorders · 2017Article
- Article
- Evidence for contribution of common genetic variants within chromosome 8p21.2-8p21.1 to restricted and repetitive behaviors in autism spectrum disorders.BMC genomics · 2016Article
- 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
- A comprehensive meta-analysis of common genetic variants in autism spectrum conditions.Molecular autism · 2015Article
- Biomarkers in autism spectrum disorder: the old and the new.Psychopharmacology · 2014Review
- Behavioral signatures related to genetic disorders in autism.Molecular autism · 2014Article
- Glix 13, a new drug acting on glutamatergic pathways in children and animal models of autism spectrum disorders.BioMed research international · 2014Review
- An inside job: how endosomal Na(+)/H(+) exchangers link to autism and neurological disease.Frontiers in cellular neuroscience · 2014Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundThe search for susceptibility genes in autism and autism spectrum disorders (ASD) has been hindered by the possible small effects of individual genes and by genetic (locus) heterogeneity. To overcome these obstacles, one method is to use autism-related subphenotypes instead of the categorical diagnosis of autism since they may be more directly related to the underlying susceptibility loci. Another strategy is to analyze subsets of families that meet certain clinical criteria to reduce genetic heterogeneity.
methodsIn this study, using 976 multiplex families from the Autism Genome Project consortium, we performed genome-wide linkage analyses on two quantitative subphenotypes, the total scores of the reciprocal social interaction domain and the restricted, repetitive, and stereotyped patterns of behavior domain from the Autism Diagnostic Interview-Revised. We also selected subsets of ASD families based on four binary subphenotypes, delayed onset of first words, delayed onset of first phrases, verbal status, and IQ > or = 70.
resultsWhen the ASD families with IQ > or = 70 were used, a logarithm of odds (LOD) score of 4.01 was obtained on chromosome 15q13.3-q14, which was previously linked to schizophrenia. We also obtained a LOD score of 3.40 on chromosome 11p15.4-p15.3 using the ASD families with delayed onset of first phrases. No significant evidence for linkage was obtained for the two quantitative traits.
conclusionsThis study demonstrates that selection of informative subphenotypes to define a homogeneous set of ASD families could be very important in detecting the susceptibility loci in autism.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.