Evidence map›Paper›PMID 24387768›Full record

ArticleBMC medical genetics2014

Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1.

Wei Xu, Sarah Cohen-Woods, Qian Chen, Abdul Noor, Jo Knight, Georgina Hosang, Sagar V Parikh, Vincenzo De Luca, Federica Tozzi, Pierandrea Muglia and 9 more

Open access · goldAbstract read
In one paragraph

Article in BMC medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
67citing papers in PubMed, 2 pooled it
13.3field-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

67 citing papers in PubMed, 2 syntheses or guidelines pooled it, 113 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
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7 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

19 authors at 9 institutions in 5 countries.

Wei Xu
Sarah Cohen-Woods
Qian Chen
Abdul Noor
Jo Knight
Georgina Hosang
Sagar V Parikh
Vincenzo De Luca
Federica Tozzi
Pierandrea Muglia
Julia Forte
Andrew McQuillin
Pingzhao Hu
Hugh M D Gurling
James L Kennedy
Peter McGuffin
Anne Farmer
John Strauss
John B VincentNeurogenetics Section, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health (CAMH), R-32, 250 College Street, Toronto, ON M5T 1R8, Canada. john.vincent@camh.ca.
Centre for Addiction and Mental Health · CAKing's College London · GBUniversity of Toronto · CAGlaxoSmithKline (Italy) · ITUniversity College London · GBCancer Care Ontario · CAGreen Chemistry · PLHospital for Sick Children · CAPublic Health Ontario · CA

Funding

CIHR MOP-172013Medical Research Council G1000708
6 · The paper itself

Abstract

backgroundRecently, genome-wide association studies (GWAS) for cases versus controls using single nucleotide polymorphism microarray data have shown promising findings for complex neuropsychiatric disorders, including bipolar disorder (BD).

methodsHere we describe a comprehensive genome-wide study of bipolar disorder (BD), cross-referencing analysis from a family-based study of 229 small families with association analysis from over 950 cases and 950 ethnicity-matched controls from the UK and Canada. Further, loci identified in these analyses were supported by pathways identified through pathway analysis on the samples.

resultsAlthough no genome-wide significant markers were identified, the combined GWAS findings have pointed to several genes of interest that support GWAS findings for BD from other groups or consortia, such as at SYNE1 on 6q25, PPP2R2C on 4p16.1, ZNF659 on 3p24.3, CNTNAP5 (2q14.3), and CDH13 (16q23.3). This apparent corroboration across multiple sites gives much confidence to the likelihood of genetic involvement in BD at these loci. In particular, our two-stage strategy found association in both our combined case/control analysis and the family-based analysis on 1q21.2 (closest gene: sphingosine-1-phosphate receptor 1 gene, S1PR1) and on 1q24.1 near the gene TMCO1, and at CSMD1 on 8p23.2, supporting several previous GWAS reports for BD and for schizophrenia. Pathway analysis suggests association of pathways involved in calcium signalling, neuropathic pain signalling, CREB signalling in neurons, glutamate receptor signalling and axonal guidance signalling.

conclusionsThe findings presented here show support for a number of genes previously implicated genes in the etiology of BD, including CSMD1 and SYNE1, as well as evidence for previously unreported genes such as the brain-expressed genes ADCY2, NCALD, WDR60, SCN7A and SPAG16.

Indexed as

Genome-Wide Association StudyBipolar DisorderCanadaCohort StudiesCytoskeletal ProteinsGenetic LociGenotypeHumansMembrane ProteinsNerve Tissue ProteinsNuclear ProteinsPedigreeReproducibility of ResultsTumor Suppressor ProteinsUnited KingdomYoung AdultCSMD1 protein, humanCytoskeletal ProteinsMembrane ProteinsNerve Tissue ProteinsNuclear ProteinsSYNE1 protein, humanTumor Suppressor Proteins

Identifiers

PMID24387768
PMCPMC3901032
OpenAlexW2140484686

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.