Evidence map›Paper›PMID 19539887›Full record

ArticleAmerican journal of human genetics2009

Gene ontology analysis of GWA study data sets provides insights into the biology of bipolar disorder.

Peter Holmans, Elaine K Green, Jaspreet Singh Pahwa, Manuel A R Ferreira, Shaun M Purcell, Pamela Sklar, Wellcome Trust Case-Control Consortium, Michael J Owen, Michael C O'Donovan, Nick Craddock

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 251 papers, 14 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
251citing papers in PubMed, 14 pooled it
28.2field-weighted citation impact, top 1% 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

251 citing papers in PubMed, 14 syntheses or guidelines pooled it, 383 citations in OpenAlex.

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  15. Human genome-guided identification of memory-modulating drugs.Proceedings of the National Academy of Sciences of the United States of America · 2013
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191 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

10 authors at 4 institutions in 3 countries.

Peter HolmansMRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Heath Park, CF23 6BQ Cardiff, UK. holmanspa@cardiff.ac.uk
Elaine K Green
Jaspreet Singh Pahwa
Manuel A R Ferreira
Shaun M Purcell
Pamela Sklar
Wellcome Trust Case-Control Consortium
Michael J Owen
Michael C O'Donovan
Nick Craddock
Cardiff University · GBBroad Institute · USHarvard University · USMassachusetts General Hospital · US

Funding

Medical Research Council G0801418Wellcome Trust
6 · The paper itself

Abstract

We present a method for testing overrepresentation of biological pathways, indexed by gene-ontology terms, in lists of significant SNPs from genome-wide association studies. This method corrects for linkage disequilibrium between SNPs, variable gene size, and multiple testing of nonindependent pathways. The method was applied to the Wellcome Trust Case-Control Consortium Crohn disease (CD) data set. At a general level, the biological basis of CD is relatively well known for a complex genetic trait, and it thus acted as a test of the method. The method, known as ALIGATOR (Association LIst Go AnnoTatOR), successfully detected biological pathways implicated in CD. The method was also applied to a meta-analysis of bipolar disorder, and it implicated the modulation of transcription and cellular activity, including that which occurs via hormonal action, as an important player in pathogenesis.

Indexed as

Genome-Wide Association StudyBipolar DisorderComputational BiologyCrohn DiseaseDatabases, GeneticGenetic Predisposition to DiseaseHumansPolymorphism, Single Nucleotide

Identifiers

PMID19539887
PMCPMC2706963
OpenAlexW1991160835

What OpenQuestion holds

Textmetadata
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.