Evidence map›Paper›PMID 33278486›Full record

ArticleGenomics2021

Characterizing the effect of background selection on the polygenicity of brain-related traits.

Frank R Wendt, Gita A Pathak, Cassie Overstreet, Daniel S Tylee, Joel Gelernter, Elizabeth G Atkinson, Renato Polimanti

Abstract read
In one paragraph

Article in Genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 2 pooled it
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

16 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Frank R WendtDepartment of Psychiatry, Yale School of Medicine and VA CT Healthcare System, West Haven, CT 06516, USA.
Gita A PathakDepartment of Psychiatry, Yale School of Medicine and VA CT Healthcare System, West Haven, CT 06516, USA.
Cassie OverstreetNational Center for Posttraumatic Stress Disorder, Clinical Neurosciences Division, VA CT Healthcare System and Department of Psychiatry, Yale University School of Medicine, USA.
Daniel S TyleeDepartment of Psychiatry, Yale School of Medicine and VA CT Healthcare System, West Haven, CT 06516, USA.
Joel GelernterDepartment of Psychiatry, Yale School of Medicine and VA CT Healthcare System, West Haven, CT 06516, USA; Departments of Genetics and Neuroscience, Yale University School of Medicine, New Haven, CT 06510, USA.
Elizabeth G AtkinsonAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Renato PolimantiDepartment of Psychiatry, Yale School of Medicine and VA CT Healthcare System, West Haven, CT 06516, USA. Electronic address: renato.polimanti@yale.edu.

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
Genome-wide Investigation of the Interplay Between Age-Related Hearing Loss and Smoking BehaviorsR21DC018098 · NIDCD · YALE UNIVERSITY · PI POLIMANTI, RENATO · 2019 to 2021
$440k
Investigating the Systems Genetics of the Patterns of Polysubstance Abuse and AddictionR21DA047527 · NIDA · YALE UNIVERSITY · PI POLIMANTI, RENATO · 2019 to 2020
$369k
Decoding the Sex-Specific Biological Mechanisms of Psychiatric Disorders Using Genome-Wide AnalysesF32MH122058 · NIMH · YALE UNIVERSITY · PI WENDT, FRANK · 2020 to 2021
$118k
NCATS NIH HHS UL1 TR001863NIDA NIH HHS R21 DA047527NIDCD NIH HHS R21 DC018098NIMH NIH HHS F32 MH122058
6 · The paper itself

Abstract

backgroundGenome-wide association studies (GWAS) have demonstrated that psychopathology phenotypes are affected by many risk alleles with small effect (polygenicity). It is unclear how ubiquitously evolutionary pressures influence the genetic architecture of these traits.

methodsWe partitioned SNP heritability to assess the contribution of background (BGS) and positive selection, Neanderthal local ancestry, functional significance, and genotype networks in 75 brain-related traits (8411 ≤ N ≤ 1,131,181, mean N = 205,289). We applied binary annotations by dichotomizing each measure based on top 2%, 1%, and 0.5% of all scores genome-wide. Effect size distribution features were calculated using GENESIS. We tested the relationship between effect size distribution descriptive statistics and natural selection. In a subset of traits, we explore the inclusion of diagnostic heterogeneity (e.g., number of diagnostic combinations and total symptoms) in the tested relationship.

resultsSNP-heritability was enriched (false discovery rate q < 0.05) for loci with elevated BGS (7 phenotypes) and in genic (34 phenotypes) and loss-of-function (LoF)-intolerant regions (67 phenotypes). These effects were strongest in GWAS of schizophrenia (1.90-fold BGS, 1.16-fold genic, and 1.92-fold LoF), educational attainment (1.86-fold BGS, 1.12-fold genic, and 1.79-fold LoF), and cognitive performance (2.29-fold BGS, 1.12-fold genic, and 1.79-fold LoF). BGS (top 2%) significantly predicted effect size variance for trait-associated loci (σ

conclusionsBrain-related phenotypes with larger variance in risk locus effect sizes are associated with loci under BGS. We show exploratory results suggesting that diagnostic complexity may also contribute to the increased polygenicity of psychiatric disorders.

Indexed as

Genetic BackgroundGenetic HeterogeneityMultifactorial InheritanceSelection, GeneticBrainHumansMental DisordersPhenotypePolymorphism, Single NucleotideBackground selectionComplex traitsDiagnostic heterogeneityNatural selectionPartitioned heritabilityPsychiatry

Identifiers

PMID33278486
PMCPMC7855394

What Socratic holds

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Registered trials

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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 Socratic graph.