ArticleNature communications2019
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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
30 citing papers in PubMed.
- Clinical and genetic characterization of intellectual disability.Developmental medicine and child neurology · 2026Article
- Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome.Clinical genetics · 2026Article
- Joint analysis ofNAR genomics and bioinformatics · 2025Article
- ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.European journal of human genetics : EJHG · 2025Article
- Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Rare variants and founder effect in the Beauce region of Quebec.Communications biology · 2025Article
- NovelInternational journal of molecular sciences · 2025Article
- Article
- Genetic Heterogeneity in Four Probands RevealsBiomedicines · 2024Article
- Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.European journal of human genetics : EJHG · 2024Article
- Genetic modifiers of rare variants in monogenic developmental disorder loci.Nature genetics · 2024Article
- Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance.Genome medicine · 2024Article
- Geographical variation in treated psychotic and other mental disorders in Finland by region and urbanicity.Social psychiatry and psychiatric epidemiology · 2024Article
- Case Report: Intellectual disability and borderline intellectual functioning in two sisters with a 12p11.22 loss.Frontiers in genetics · 2024Article
- The impact of rare protein coding genetic variation on adult cognitive function.Nature genetics · 2023Article
- Review
- Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.Frontiers in neuroscience · 2023Article
- The Finnish genetic heritage in 2022 - from diagnosis to translational research.Disease models & mechanisms · 2022Review
- PIDD1 in cell cycle control, sterile inflammation and cell death.Biochemical Society transactions · 2022Review
- An approach to gene-based testing accounting for dependence of tests among nearby genes.Briefings in bioinformatics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The contribution of de novo variants in severe intellectual disability (ID) has been extensively studied whereas the genetics of mild ID has been less characterized. To elucidate the genetics of milder ID we studied 442 ID patients enriched for mild ID (>50%) from a population isolate of Finland. Using exome sequencing, we show that rare damaging variants in known ID genes are observed significantly more often in severe (27%) than in mild ID (13%) patients. We further observe a significant enrichment of functional variants in genes not yet associated with ID (OR: 2.1). We show that a common variant polygenic risk significantly contributes to ID. The heritability explained by polygenic risk score is the highest for educational attainment (EDU) in mild ID (2.2%) but lower for more severe ID (0.6%). Finally, we identify a Finland enriched homozygote variant in the CRADD ID associated gene.
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.