Evidence map›Paper›PMID 21866342›Full record

ArticleHuman genetics2012

Ion channels and schizophrenia: a gene set-based analytic approach to GWAS data for biological hypothesis testing.

Kathleen Askland, Cynthia Read, Chloe O'Connell, Jason H Moore

Abstract read
In one paragraph

Article in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
2.6field-weighted citation impact, top 11% 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

22 citing papers in PubMed, 39 citations in OpenAlex.

  1. Article
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  3. Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2023
    Review
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  7. A molecule-based genetic association approach implicates a range of voltage-gated calcium channels associated with schizophrenia.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2018
    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

4 authors at 3 institutions in 1 country.

Kathleen AsklandDepartment of Psychiatry and Human Behavior, Butler Hospital, Brown University, Providence, RI 02906, USA. k.askland@gmail.com
Cynthia Read
Chloe O'Connell
Jason H Moore
Butler Hospital · USBrown University · USDartmouth College · US

Funding

A Computational Analysis of Psychiatric Genetics Data: Pathways and ArchitectureK08MH085810 · NIMH · BUTLER HOSPITAL (PROVIDENCE, RI) · PI ASKLAND, KATHLEEN DAWN · 2009 to 2013
$923k
NIMH NIH HHS K08 MH085810NIMH NIH HHS K08MH085810
6 · The paper itself

Abstract

Schizophrenia is a complex genetic disorder. Gene set-based analytic (GSA) methods have been widely applied for exploratory analyses of large, high-throughput datasets, but less commonly employed for biological hypothesis testing. Our primary hypothesis is that variation in ion channel genes contribute to the genetic susceptibility to schizophrenia. We applied Exploratory Visual Analysis (EVA), one GSA application, to analyze European-American (EA) and African-American (AA) schizophrenia genome-wide association study datasets for statistical enrichment of ion channel gene sets, comparing GSA results derived under three SNP-to-gene mapping strategies: (1) GENIC; (2) 500-Kb; (3) 2.5-Mb and three complimentary SNP-to-gene statistical reduction methods: (1) minimum p value (pMIN); (2) a novel method, proportion of SNPs per Gene with p values below a pre-defined α-threshold (PROP); and (3) the truncated product method (TPM). In the EA analyses, ion channel gene set(s) were enriched under all mapping and statistical approaches. In the AA analysis, ion channel gene set(s) were significantly enriched under pMIN for all mapping strategies and under PROP for broader mapping strategies. Less extensive enrichment in the AA sample may reflect true ethnic differences in susceptibility, sampling or case ascertainment differences, or higher dimensionality relative to sample size of the AA data. More consistent findings under broader mapping strategies may reflect enhanced power due to increased SNP inclusion, enhanced capture of effects over extended haplotypes or significant contributions from regulatory regions. While extensive pMIN findings may reflect gene size bias, the extent and significance of PROP and TPM findings suggest that common variation at ion channel genes may capture some of the heritability of schizophrenia.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyChromosome MappingHumansIon ChannelsPolymorphism, Single NucleotidePsychological TheorySchizophreniaIon Channels

Identifiers

PMID21866342
PMCPMC3278516
OpenAlexW1977041957

What OpenQuestion holds

Textmetadata
LicenceTDM
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.