ArticleAnnals of human genetics2009
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.
Article in Annals of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 120 papers, 2 of them syntheses that pooled it.
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.
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.
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Who cites it
120 citing papers in PubMed, 2 syntheses or guidelines pooled it, 223 citations in OpenAlex.
- Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.Molecular autism · 2017Pooled it
- The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis.Molecular psychiatry · 2015Pooled it
- Male-Biased Social Deficits in Chd8Neuroscience bulletin · 2026Article
- Digestive Neurobiology in Autism: From Enteric and Central Nervous System Interactions to Shared Genetic Pathways.International journal of molecular sciences · 2025Review
- Dysregulation of heterochromatin caused by genomic structural variants may be central to autism spectrum disorder.Frontiers in molecular neuroscience · 2025Article
- Molecular profiling of the hippocampus of children with autism spectrum disorder.Molecular psychiatry · 2024Article
- The genetic landscape of autism spectrum disorder in the Middle Eastern population.Frontiers in genetics · 2024Article
- Structural variants identified using non-Mendelian inheritance patterns advance the mechanistic understanding of autism spectrum disorder.HGG advances · 2023Article
- DeepND: Deep multitask learning of gene risk for comorbid neurodevelopmental disorders.Patterns (New York, N.Y.) · 2022Article
- Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.NPJ genomic medicine · 2022Article
- Editorial: Brain extracellular matrix: Involvement in adult neural functions and disease volume II.Frontiers in integrative neuroscience · 2022Article
- Three decades of ASD genetics: building a foundation for neurobiological understanding and treatment.Human molecular genetics · 2021Article
- Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families.Genes · 2021Article
- Genetic influences of autism candidate genes on circuit wiring and olfactory decoding.Cell and tissue research · 2021Review
- Predicting the Risk Genes of Autism Spectrum Disorders.Frontiers in genetics · 2021Article
- Article
- Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis.Brain sciences · 2020Article
- Integrative analyses indicate an association between ITIH3 polymorphisms with autism spectrum disorder.Scientific reports · 2020Article
- Impact of autism-associated genetic variants in interaction with environmental factors on ADHD comorbidities: an exploratory pilot study.Journal of neural transmission (Vienna, Austria : 1996) · 2019Article
- Review
60 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 4 institutions in 1 country.
Funding
Abstract
Although autism is one of the most heritable neuropsychiatric disorders, its underlying genetic architecture has largely eluded description. To comprehensively examine the hypothesis that common variation is important in autism, we performed a genome-wide association study (GWAS) using a discovery dataset of 438 autistic Caucasian families and the Illumina Human 1M beadchip. 96 single nucleotide polymorphisms (SNPs) demonstrated strong association with autism risk (p-value < 0.0001). The validation of the top 96 SNPs was performed using an independent dataset of 487 Caucasian autism families genotyped on the 550K Illumina BeadChip. A novel region on chromosome 5p14.1 showed significance in both the discovery and validation datasets. Joint analysis of all SNPs in this region identified 8 SNPs having improved p-values (3.24E-04 to 3.40E-06) than in either dataset alone. Our findings demonstrate that in addition to multiple rare variations, part of the complex genetic architecture of autism involves common variation.
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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.