ArticleBMC psychiatry2007
The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica.
Article in BMC psychiatry, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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.
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Who cites it
5 citing papers in PubMed.
- Deleterious coding variation associated with autism is shared across ancestries.Nature medicine · 2026Article
- Identification of candidate genes for congenital heart defects on proximal chromosome 8p.Scientific reports · 2016Article
- Parent-of-origin effects in autism identified through genome-wide linkage analysis of 16,000 SNPs.PloS one · 2010Article
- A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region.Molecular autism · 2010Article
- Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer.Molecular psychiatry · 2009Review
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
backgroundWe are conducting a genetic study of autism in the isolated population of the Central Valley of Costa Rica (CVCR). A novel Neuregulin 1 (NRG1) missense variant (exon 11 G>T) was recently associated with psychosis and schizophrenia (SCZ) in the same population isolate.
methodsWe genotyped the NRG1 exon 11 missense variant in 146 cases with autism, or autism spectrum disorder, with CVCR ancestry, and both parents when available (N = 267 parents) from 143 independent families. Additional microsatellites were genotyped to examine haplotypes bearing the exon 11 variant.
resultsThe NRG1 exon 11 G>T variant was found in 4/146 cases including one de novo occurrence. The frequency of the variant in case chromosomes was 0.014 and 0.045 in the parental non-transmitted chromosomes. At least 6 haplotypes extending 0.229 Mb were associated with the T allele. Three independent individuals, with no personal or family history of psychiatric disorder, shared at least a 1 megabase haplotype 5' to the T allele.
conclusionThe NRG1 exon 11 missense variant is not associated with autism in the CVCR.
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