ArticleMolecular autism2010
Assessing the impact of a combined analysis of four common low-risk genetic variants on autism risk.
Article in Molecular autism, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 3 of them syntheses that pooled it.
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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
12 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Mitochondrial Aspartate/Glutamate Carrier SLC25A12 and Autism Spectrum Disorder: a Meta-Analysis.Molecular neurobiology · 2016Pooled it
- Early Identification of Autism Spectrum Disorder: Recommendations for Practice and Research.Pediatrics · 2015Guideline
- Early Screening of Autism Spectrum Disorder: Recommendations for Practice and Research.Pediatrics · 2015Guideline
- Association between GRIK1 rs363598 and intergenic rs360932 variants and susceptibility to autism spectrum disorders in Egyptian children.BMC pediatrics · 2025Article
- A neurogenetics approach to defining differential susceptibility to institutional care.International journal of behavioral development · 2015Article
- Association study in siblings and case-controls of serotonin- and oxytocin-related genes with high functioning autism.Journal of molecular psychiatry · 2014Article
- Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?Molecular autism · 2013Article
- Power and predictive accuracy of polygenic risk scores.PLoS genetics · 2013Article
- Complex epigenetic regulation of engrailed-2 (EN-2) homeobox gene in the autism cerebellum.Translational psychiatry · 2013Article
- Predicting white matter integrity from multiple common genetic variants.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2012Article
- Autism risk assessment in siblings of affected children using sex-specific genetic scores.Molecular autism · 2011Article
- Risk factors for autism: translating genomic discoveries into diagnostics.Human genetics · 2011Review
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAutism is a complex disorder characterized by deficits involving communication, social interaction, and repetitive and restrictive patterns of behavior. Twin studies have shown that autism is strongly heritable, suggesting a strong genetic component. In other disease states with a complex etiology, such as type 2 diabetes, cancer and cardiovascular disease, combined analysis of multiple genetic variants in a genetic score has helped to identify individuals at high risk of disease. Genetic scores are designed to test for association of genetic markers with disease.
methodThe accumulation of multiple risk alleles markedly increases the risk of being affected, and compared with studying polymorphisms individually, it improves the identification of subgroups of individuals at greater risk. In the present study, we show that this approach can be applied to autism by specifically looking at a high-risk population of children who have siblings with autism. A two-sample study design and the generation of a genetic score using multiple independent genes were used to assess the risk of autism in a high-risk population.
resultsIn both samples, odds ratios (ORs) increased significantly as a function of the number of risk alleles, with a genetic score of 8 being associated with an OR of 5.54 (95% confidence interval [CI] 2.45 to 12.49). The sensitivities and specificities for each genetic score were similar in both analyses, and the resultant area under the receiver operating characteristic curves were identical (0.59).
conclusionsThese results suggest that the accumulation of multiple risk alleles in a genetic score is a useful strategy for assessing the risk of autism in siblings of affected individuals, and may be better than studying single polymorphisms for identifying subgroups of individuals with significantly greater risk.
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