Evidence map›Paper›PMID 22511889›Full record

ArticlePLoS genetics2012

Runs of homozygosity implicate autozygosity as a schizophrenia risk factor.

Matthew C Keller, Matthew A Simonson, Stephan Ripke, Ben M Neale, Pablo V Gejman, Daniel P Howrigan, Sang Hong Lee, Todd Lencz, Douglas F Levinson, Patrick F Sullivan and 1 more

Open access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
81citing papers in PubMed, 1 pooled it
9.1field-weighted citation impact, top 2% of its field
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

81 citing papers in PubMed, 1 synthesis or guideline pooled it, 124 citations in OpenAlex.

  1. Pooled it
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  16. Genomic partitioning of inbreeding depression in humans.American journal of human genetics · 2021
    Article
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21 more citing papers are in PubMed but not listed here.

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

11 authors at 7 institutions in 3 countries.

Matthew C KellerDepartment of Psychology and Neuroscience, University of Colorado at Boulder, Boulder, Colorado, United States of America. matthew.c.keller@gmail.com
Matthew A Simonson
Stephan Ripke
Ben M Neale
Pablo V Gejman
Daniel P Howrigan
Sang Hong Lee
Todd Lencz
Douglas F Levinson
Patrick F Sullivan
Schizophrenia Psychiatric Genome-Wide Association Study Consortium
University of Colorado Boulder · USCenter for Human Genetics · USFeinstein Institute for Medical Research · USKarolinska Institutet · SEQIMR Berghofer Medical Research Institute · AUStanford University · USUniversity of Chicago · US

Funding

MOLECULAR GENETICS OF SCHIZOPHRENIAR01MH061675 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI LEVINSON, DOUGLAS FREDERICK · 1999 to 2007
$1.8M
Evolutionary Roles of Homozygosity & Copy Number Variation in Mental DisordersK01MH085812 · NIMH · UNIVERSITY OF COLORADO · PI KELLER, MATTHEW CHARLES · 2010 to 2014
$751k
1/5-The Psychiatric GWAS Consortium: Integrated & Coordinated GWAS Meta-AnalysesU01MH085520 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2008 to 2008
$642k
Medical Research Council G0800509NIMH NIH HHS K01 MH085812NIMH NIH HHS MH085520NIMH NIH HHS MH085812NIMH NIH HHS MH61675NIMH NIH HHS R01 MH061675NIMH NIH HHS U01 MH085520
6 · The paper itself

Abstract

Autozygosity occurs when two chromosomal segments that are identical from a common ancestor are inherited from each parent. This occurs at high rates in the offspring of mates who are closely related (inbreeding), but also occurs at lower levels among the offspring of distantly related mates. Here, we use runs of homozygosity in genome-wide SNP data to estimate the proportion of the autosome that exists in autozygous tracts in 9,388 cases with schizophrenia and 12,456 controls. We estimate that the odds of schizophrenia increase by ~17% for every 1% increase in genome-wide autozygosity. This association is not due to one or a few regions, but results from many autozygous segments spread throughout the genome, and is consistent with a role for multiple recessive or partially recessive alleles in the etiology of schizophrenia. Such a bias towards recessivity suggests that alleles that increase the risk of schizophrenia have been selected against over evolutionary time.

Indexed as

Genes, RecessiveHomozygotePolymorphism, Single NucleotideAllelesFemaleGenetic Predisposition to DiseaseGenome, HumanHaplotypesHumansMaleRisk FactorsSchizophreniaWhite People

Identifiers

PMID22511889
PMCPMC3325203
OpenAlexW2160438116

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.