Evidence map›Paper›PMID 19266052›Full record

ArticlePloS one2009

A common and unstable copy number variant is associated with differences in Glo1 expression and anxiety-like behavior.

Richard Williams, Jackie E Lim, Bettina Harr, Claudia Wing, Ryan Walters, Margaret G Distler, Meike Teschke, Chunlei Wu, Tim Wiltshire, Andrew I Su and 4 more

Abstract read
In one paragraph

Article in PloS one, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.

0numbers the graph read from it
0cells of the map it votes in
57citing papers in PubMed
–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

57 citing papers in PubMed.

  1. Article
  2. Article
  3. The Human Glyoxalase Gene Family in Health and Disease.Chemical research in toxicology · 2022
    Review
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  5. Article
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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

14 authors.

Richard WilliamsCommittee on Computational Neuroscience, University of Chicago, Chicago, Illinois, United States of America.
Jackie E Lim
Bettina Harr
Claudia Wing
Ryan Walters
Margaret G Distler
Meike Teschke
Chunlei Wu
Tim Wiltshire
Andrew I Su
Greta Sokoloff
Lisa M Tarantino
Justin O Borevitz
Abraham A Palmer

Funding

Training in Emerging Multidisciplinary Approaches to Mental Health and DiseaseT32MH020065 · NIMH · UNIVERSITY OF CHICAGO · PI NICOLAE, DAN LIVIU, RZHETSKY, ANDREY · 2002 to 2017
$2.3M
FINDING GENES THAT CAUSE QLT FOR FEAR LEARNING AND ANXIETYR01MH079103 · NIMH · UNIVERSITY OF CHICAGO · PI PALMER, ABRAHAM A · 2007 to 2011
$1.9M
Translational Genetic Study of Fear and AnxietyK01MH070933 · NIMH · UNIVERSITY OF CHICAGO · PI PALMER, ABRAHAM A · 2004 to 2007
$623k
NIMH NIH HHS K01 MH070933NIMH NIH HHS MH020065NIMH NIH HHS MH070933NIMH NIH HHS MH79103NIMH NIH HHS R01 MH079103NIMH NIH HHS T32 MH020065
6 · The paper itself

Abstract

Glyoxalase 1 (Glo1) has been implicated in anxiety-like behavior in mice and in multiple psychiatric diseases in humans. We used mouse Affymetrix exon arrays to detect copy number variants (CNV) among inbred mouse strains and thereby identified a approximately 475 kb tandem duplication on chromosome 17 that includes Glo1 (30,174,390-30,651,226 Mb; mouse genome build 36). We developed a PCR-based strategy and used it to detect this duplication in 23 of 71 inbred strains tested, and in various outbred and wild-caught mice. Presence of the duplication is associated with a cis-acting expression QTL for Glo1 (LOD>30) in BXD recombinant inbred strains. However, evidence for an eQTL for Glo1 was not obtained when we analyzed single SNPs or 3-SNP haplotypes in a panel of 27 inbred strains. We conclude that association analysis in the inbred strain panel failed to detect an eQTL because the duplication was present on multiple highly divergent haplotypes. Furthermore, we suggest that non-allelic homologous recombination has led to multiple reversions to the non-duplicated state among inbred strains. We show associations between multiple duplication-containing haplotypes, Glo1 expression and anxiety-like behavior in both inbred strain panels and outbred CD-1 mice. Our findings provide a molecular basis for differential expression of Glo1 and further implicate Glo1 in anxiety-like behavior. More broadly, these results identify problems with commonly employed tests for association in inbred strains when CNVs are present. Finally, these data provide an example of biologically significant phenotypic variability in model organisms that can be attributed to CNVs.

Indexed as

Gene DosageGenetic VariationAnimalsAnxietyGenome-Wide Association StudyHaplotypesLactoylglutathione LyaseMiceMice, Inbred StrainsPolymerase Chain ReactionPolymorphism, Single NucleotideQuantitative Trait LociTranscriptional ActivationLactoylglutathione Lyase

Identifiers

PMID19266052
PMCPMC2650792

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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 OpenQuestion graph.