Evidence map›Paper›PMID 21176025›Full record

ArticleBipolar disorders2010

Family-based association analysis to finemap bipolar linkage peak on chromosome 8q24 using 2,500 genotyped SNPs and 15,000 imputed SNPs.

Peng Zhang, Nan Xiang, Yi Chen, Elżbieta Sliwerska, Melvin G McInnis, Margit Burmeister, Sebastian Zöllner

Abstract readEditorial
In one paragraph

Article in Bipolar disorders, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 3 pooled it
–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

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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

25 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. CaFrontiers in cellular neuroscience · 2023
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  6. Genomics in Treatment Development.Advances in neurobiology · 2023
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  7. Review
  8. Expression and functions of adenylyl cyclases in the CNS.Fluids and barriers of the CNS · 2022
    Review
  9. CaFrontiers in pharmacology · 2022
    Review
  10. Article
  11. Article
  12. Article
  13. Bipolar disorder risk geneJournal of psychiatry & neuroscience : JPN · 2017
    Article
  14. Review
  15. Review
  16. Review
  17. Review
  18. Review
  19. Article
  20. Article
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

7 authors.

Peng ZhangCenter for Computational Medicine and Bioinformatics Center for Statistical Genetics, Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
Nan Xiang
Yi Chen
Elżbieta Sliwerska
Melvin G McInnis
Margit Burmeister
Sebastian Zöllner

Funding

Fine mapping 8q24 in Familial Bipolar DisorderR01MH070775 · NIMH · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MCINNIS, MELVIN G · 2005 to 2007
$969k
NIMH NIH HHS R01 MH070775NIMH NIH HHS R01-MH070775
6 · The paper itself

Abstract

objectiveMultiple linkage and association studies have suggested chromosome 8q24 as a promising candidate region for bipolar disorder (BP). We performed a detailed association analysis assessing the contribution of common genetic variation in this region to the risk of BP.

methodsWe analyzed 2,756 single nucleotide polymorphism (SNP) markers in the chromosome 8q24 region of 3,512 individuals from 737 families. In addition, we extended genotype imputation methods to family-based data and imputed 22,725 HapMap SNPs in the same region on 8q24. We applied a family-based method to test 15,552 high-quality genotyped or imputed SNPs for association with BP.

resultsOur association analysis identified the most significant marker (p=4.80 × 10(-5) ), near the gene encoding potassium voltage-gated channel KQT-like protein (KCNQ3). Other marginally significant markers were located near adenylate cyclase 8 (ADCY8) and ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1).

conclusionsWe developed an approach to apply MACH imputation to family-based data, which can increase the power to detect association signals. Our association results showed suggestive evidence of association of BP with loci near KCNQ3, ADCY8, and ST3GAL1. Consistent with genes identified by genome-wide association studies for BP, our results suggest the involvement of ion channelopathy in BP pathogenesis. However, common variants are insufficient to explain linkage findings in 8q24; other genetic variation should be explored.

Indexed as

Chromosomes, Human, Pair 8Polymorphism, Single NucleotideAdenylyl CyclasesAdultbeta-Galactoside alpha-2,3-SialyltransferaseBipolar DisorderFamilyFemaleGenetic Association StudiesGenetic LinkageGenetic MarkersGenetic Predisposition to DiseaseGenotypeHaplotypesHumansKCNQ3 Potassium Channeladenylyl cyclase 8Adenylyl Cyclasesbeta-Galactoside alpha-2,3-SialyltransferaseGenetic MarkersKCNQ3 Potassium ChannelKCNQ3 protein, humanSialyltransferasesST3GAL1 protein, human

Identifiers

PMID21176025
PMCPMC3290916

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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.