ArticleMolecular psychiatry2012
Allowing for sex differences increases power in a GWAS of multiplex Autism families.
Article in Molecular psychiatry, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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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
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Childhood-Onset Schizophrenia: A Systematic Overview of Its Genetic Heterogeneity From Classical Studies to the Genomic Era.Frontiers in genetics · 2019Pooled it
- Expression of the Human R163C-International journal of molecular sciences · 2026Article
- Polymorphisms in Oxytocin and Vasopressin Receptor Genes as a Factor Shaping the Clinical Picture and the Risk of ASD in Males.Brain sciences · 2023Article
- Gene×environment interactions in autism spectrum disorders.Current topics in developmental biology · 2023Review
- Sex-biased effects on hippocampal circuit development by perinatal SERT expression in CA3 pyramidal neurons.Development (Cambridge, England) · 2022Article
- Genetic predisposition to tinnitus in the UK Biobank population.Scientific reports · 2021Article
- Sex and Genotype Modulate the Dendritic Effects of Developmental Exposure to a Human-Relevant Polychlorinated Biphenyls Mixture in the Juvenile Mouse.Frontiers in neuroscience · 2021Article
- The Role of Ion Channel-Related Genes in Autism Spectrum Disorder: A Study Using Next-Generation Sequencing.Frontiers in genetics · 2021Article
- Sex-Dependent Aggregation of Tinnitus in Swedish Families.Journal of clinical medicine · 2020Article
- Review
- Evidence Implicating Non-Dioxin-Like Congeners as the Key Mediators of Polychlorinated Biphenyl (PCB) Developmental Neurotoxicity.International journal of molecular sciences · 2020Review
- Sexually dimorphic behavior, neuronal activity, and gene expression in Chd8-mutant mice.Nature neuroscience · 2018Article
- Developmental neurogenetics and multimodal neuroimaging of sex differences in autism.Brain imaging and behavior · 2017Review
- Developmental disruption of amygdala transcriptome and socioemotional behavior in rats exposed to valproic acid prenatally.Molecular autism · 2017Article
- Bio-collections in autism research.Molecular autism · 2017Review
- De novo variants in sporadic cases of childhood onset schizophrenia.European journal of human genetics : EJHG · 2016Article
- RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.Scientific reports · 2016Article
- Novel interactive partners of neuroligin 3: new aspects for pathogenesis of autism.Journal of molecular neuroscience : MN · 2015Article
- Sex/gender differences and autism: setting the scene for future research.Journal of the American Academy of Child and Adolescent Psychiatry · 2015Review
- A scoring strategy combining statistics and functional genomics supports a possible role for common polygenic variation in autism.Frontiers in genetics · 2014Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Current genomewide association studies account for only a small fraction of the estimated heritabilities of genetically complex neuropsychiatric disorders, indicating they are likely to result from the small effects of numerous predisposing variants, many of which have gone undetected. The statistical power to detect associations of common variants with small effects is increased by conducting joint association tests of a single nucleotide polymorphism (SNP), an additional risk factor (F), and their interaction. F can represent an environmental exposure, another genotype or any source of genetic heterogeneity. In case and control studies, logistic regression makes joint tests straightforward. This analytic method cannot be employed directly when SNP transmission tests are used to detect associations in parent/affected child trios and multiplex families. However, the method can be implemented using the case/pseudocontrol approach. We applied this approach to analyze data from a genomewide association study of multiplex families ascertained for Autism Spectrum Disorder, where sex was used to define the F. Joint analyses revealed two associations exceeding genomewide significance. One novel gene, Ryandine Receptor 2, implicated in calcium channel defects, was identified with a joint P-value of 3.9E-11. Calcium channel defects have been connected to Autism spectrum disorder (ASD) by Timothy Syndrome, which is Mendelian, and a previous targeted sex-specific association analysis of idiopathic Autism. A second gene, uridine phosphorylase 2, with a joint P-value of 2.3E-9, has been previously linked and associated with Autism in independent samples. These findings highlight two Autism candidate genes for follow-up studies.
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