ArticleJournal of medical genetics2005
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects.
Article in Journal of medical genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis 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
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 133 citations in OpenAlex.
- Glutamatergic candidate genes in autism spectrum disorder: an overview.Journal of neural transmission (Vienna, Austria : 1996) · 2014Pooled it
- Trial
- Exploring key genes and pathways associated with sex differences in autism spectrum disorder: integrated bioinformatic analysis.Mammalian genome : official journal of the International Mammalian Genome Society · 2024Article
- Antioxidant Behavioural Phenotype in theGenes · 2023Article
- Evidence for parent-of-origin effects in autism spectrum disorder: a narrative review.Journal of applied genetics · 2023Review
- Homozygous CADPS2 Mutations Cause Neurodegenerative Disease with Lewy Body-like Pathology in Parrots.Movement disorders : official journal of the Movement Disorder Society · 2022Article
- Autism spectrum disorder in sub-saharan africa: A comprehensive scoping review.Autism research : official journal of the International Society for Autism Research · 2017Article
- Developmental neurogenetics and multimodal neuroimaging of sex differences in autism.Brain imaging and behavior · 2017Review
- MicroRNA-183 Family in Inner Ear: Hair Cell Development and Deafness.Journal of audiology & otology · 2016Review
- Pleiotropic Mechanisms Indicated for Sex Differences in Autism.PLoS genetics · 2016Article
- RELN Mutations in Autism Spectrum Disorder.Frontiers in cellular neuroscience · 2016Review
- Identification of Rare, Single-Nucleotide Mutations in NDE1 and Their Contributions to Schizophrenia Susceptibility.Schizophrenia bulletin · 2015Article
- The role of genomic imprinting in biology and disease: an expanding view.Nature reviews. Genetics · 2014Review
- Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.EMBO molecular medicine · 2014Article
- Parental obesity and risk of autism spectrum disorder.Pediatrics · 2014Article
- Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder.Molecular autism · 2014Article
- Genetic aspects of autism spectrum disorders: insights from animal models.Frontiers in cellular neuroscience · 2014Review
- Genomic imprinting and parent-of-origin effects on complex traits.Nature reviews. Genetics · 2013Review
- Sex differences in autism spectrum disorders.Current opinion in neurology · 2013Review
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 5 institutions in 3 countries.
Funding
Abstract
BACKGROUND AND
methodsAutism is a severe neurodevelopmental disorder, which has a complex genetic predisposition. The ratio of males to females affected by autism is approximately 4:1, suggesting that sex specific factors are involved in its development. We reported previously the results of a genomewide screen for autism susceptibility loci in 83 affected sibling pairs (ASP), and follow up analysis in 152 ASP. Here, we report analysis of an expanded sample of 219 ASP, using sex and parent of origin linkage modelling at loci on chromosomes 2, 7, 9, 15, and 16.
resultsThe results suggest that linkage to chromosomes 7q and 16p is contributed largely by the male-male ASP (MLS = 2.55 v 0.12, and MLS = 2.48 v 0.00, for the 145 male-male and 74 male-female/female-female ASP on chromosomes 7 and 16 respectively). Conversely linkage to chromosome 15q appears to be attributable to the male-female/female-female ASP (MLS = 2.62 v 0.00, for non-male and male-male ASP respectively). On chromosomes 2 and 9, all ASP contribute to linkage. These data, supported by permutation, suggest a possible sex limited effect of susceptibility loci on chromosomes 7, 15, and 16. Parent of origin linkage modelling indicates two distinct regions of paternal and maternal identity by descent sharing on chromosome 7 (paternal MLS = 1.46 at approximately 112 cM, and maternal MLS = 1.83 at approximately 135 cM; corresponding maternal and paternal MLS = 0.53 and 0.28 respectively), and maternal specific sharing on chromosome 9 (maternal MLS = 1.99 at approximately 30 cM; paternal MLS = 0.02).
conclusionThese data support the possibility of two discrete loci underlying linkage of autism to chromosome 7, and implicate possible parent of origin specific effects in the aetiology of autism.
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.