ArticleAmerican journal of human genetics2001
Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 123 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
123 citing papers in PubMed, 3 syntheses or guidelines pooled it, 323 citations in OpenAlex.
- Glutamatergic candidate genes in autism spectrum disorder: an overview.Journal of neural transmission (Vienna, Austria : 1996) · 2014Pooled it
- Genetic studies of stuttering in a founder population.Journal of fluency disorders · 2007Pooled it
- A heterogeneity-based genome search meta-analysis for autism-spectrum disorders.Molecular psychiatry · 2006Pooled it
- Autism and the serotonin transporter: the long and short of it.Molecular psychiatry · 2005Trial
- 2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report.BMC pediatrics · 2024Review
- Antioxidant Behavioural Phenotype in theGenes · 2023Article
- Alterations of presynaptic proteins in autism spectrum disorder.Frontiers in molecular neuroscience · 2022Review
- Loss of EPAC2 alters dendritic spine morphology and inhibitory synapse density.Molecular and cellular neurosciences · 2019Article
- Genetic Causes and Modifiers of Autism Spectrum Disorder.Frontiers in cellular neuroscience · 2019Review
- Intracellular cAMP Sensor EPAC: Physiology, Pathophysiology, and Therapeutics Development.Physiological reviews · 2018Review
- The Effects of Early Language on Age at Diagnosis and Functioning at School Age in Children with Autism Spectrum Disorder.Journal of autism and developmental disorders · 2017Article
- Bio-collections in autism research.Molecular autism · 2017Review
- Article
- Rescue of CAMDI deletion-induced delayed radial migration and psychiatric behaviors by HDAC6 inhibitor.EMBO reports · 2016Article
- Cerebellar gray matter differentiates children with early language delay in autism.Autism research : official journal of the International Society for Autism Research · 2016Article
- The phenotypic manifestations of rare genic CNVs in autism spectrum disorder.Molecular psychiatry · 2015Article
- Adaptive Functioning in Autism Spectrum Disorder During the Transition to Adulthood.Journal of autism and developmental disorders · 2015Article
- A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?Biological psychiatry · 2015Article
- Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population.Journal of Zhejiang University. Science. B · 2014Article
- A genome scan for loci shared by autism spectrum disorder and language impairment.The American journal of psychiatry · 2014Article
63 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although there is considerable evidence for a strong genetic component to idiopathic autism, several genomewide screens for susceptibility genes have been performed with limited concordance of linked loci, reflecting either numerous genes of weak effect and/or sample heterogeneity. Because decreasing sample heterogeneity would increase the power to identify genes, the effect on evidence for linkage of restricting a sample of autism-affected relative pairs to those with delayed onset (at age >36 mo) of phrase speech (PSD, for phrase speech delay) was studied. In the second stage of a two-stage genome screen for susceptibility loci involving 95 families with two or more individuals with autism or related disorders, a maximal multipoint heterogeneity LOD score (HLOD) of 1.96 and a maximal multipoint nonparametric linkage (NPL) score of 2.39 was seen on chromosome 2q. Restricting the analysis to the subset of families (n=49) with two or more individuals having a narrow diagnosis of autism and PSD generated a maximal multipoint HLOD score of 2.99 and an NPL score of 3.32. The increased scores in the restricted sample, together with evidence for heterogeneity in the entire sample, indicate that the restricted sample comprises a population that is more genetically homogeneous, which could therefore increase the likelihood of positional cloning of susceptibility loci.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.