Ontology type: schema:ScholarlyArticle Open Access: True
2021-10-06
AUTHORSLambertus Klei, Lora Lee McClain, Behrang Mahjani, Klea Panayidou, Silvia De Rubeis, Anna-Carin Säll Grahnat, Gun Karlsson, Yangyi Lu, Nadine Melhem, Xinyi Xu, Abraham Reichenberg, Sven Sandin, Christina M. Hultman, Joseph D. Buxbaum, Kathryn Roeder, Bernie Devlin
ABSTRACTBackgroundGenetic studies have implicated rare and common variations in liability for autism spectrum disorder (ASD). Of the discovered risk variants, those rare in the population invariably have large impact on liability, while common variants have small effects. Yet, collectively, common risk variants account for the majority of population-level variability. How these rare and common risk variants jointly affect liability for individuals requires further study. MethodsTo explore how common and rare variants jointly affect liability, we assessed two cohorts of ASD families characterized for rare and common genetic variations (Simons Simplex Collection and Population-Based Autism Genetics and Environment Study). We analyzed data from 3011 affected subjects, as well as two cohorts of unaffected individuals characterized for common genetic variation: 3011 subjects matched for ancestry to ASD subjects and 11,950 subjects for estimating allele frequencies. We used genetic scores, which assessed the relative burden of common genetic variation affecting risk of ASD (henceforth “burden”), and determined how this burden was distributed among three subpopulations: ASD subjects who carry a potentially damaging variant implicated in risk of ASD (“PDV carriers”); ASD subjects who do not (“non-carriers”); and unaffected subjects who are assumed to be non-carriers. ResultsBurden harbored by ASD subjects is stochastically greater than that harbored by control subjects. For PDV carriers, their average burden is intermediate between non-carrier ASD and control subjects. Both carrier and non-carrier ASD subjects have greater burden, on average, than control subjects. The effects of common and rare variants likely combine additively to determine individual-level liability. LimitationsOnly 305 ASD subjects were known PDV carriers. This relatively small subpopulation limits this study to characterizing general patterns of burden, as opposed to effects of specific PDVs or genes. Also, a small fraction of subjects that are categorized as non-carriers could be PDV carriers.ConclusionsLiability arising from common and rare risk variations likely combines additively to determine risk of any individual diagnosed with ASD. On average, ASD subjects carry a substantial burden of common risk variation, even if they also carry a rare PDV affecting risk. More... »
PAGES66
http://scigraph.springernature.com/pub.10.1186/s13229-021-00466-2
DOIhttp://dx.doi.org/10.1186/s13229-021-00466-2
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/34615521
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]Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/s13229-021-00466-2'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s13229-021-00466-2'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s13229-021-00466-2'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s13229-021-00466-2'
This table displays all metadata directly associated to this object as RDF triples.
393 TRIPLES
22 PREDICATES
112 URIs
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11 BLANK NODES