Evidence map›Paper›PMID 8917544›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America1996

A complete genome screen for genes predisposing to severe bipolar disorder in two Costa Rican pedigrees.

L A McInnes, M A Escamilla, S K Service, V I Reus, P Leon, S Silva, E Rojas, M Spesny, S Baharloo, K Blankenship and 13 more

Open access · greenAbstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
46citing papers in PubMed, 1 pooled it
6.7field-weighted citation impact, top 3% 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

46 citing papers in PubMed, 1 synthesis or guideline pooled it, 170 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Review
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  7. Expanding the phenotype half of the genotype-phenotype space.Proceedings of the National Academy of Sciences of the United States of America · 2016
    Article
  8. Neuropsychological and dimensional behavioral trait profiles in Costa Rican ADHD sib pairs: Potential intermediate phenotypes for genetic studies.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2015
    Article
  9. Article
  10. Article
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  14. Article
  15. Association between polymorphisms in the metallophosphoesterase (MPPE1) gene and bipolar disorder.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2010
    Article
  16. Article
  17. A narrow and highly significant linkage signal for severe bipolar disorder in the chromosome 5q33 region in Latin American pedigrees.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2009
    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

23 authors at 1 institution in 1 country.

L A McInnesNeurogenetics Laboratory, University of California, San Francisco 94143, USA.
M A Escamilla
S K Service
V I Reus
P Leon
S Silva
E Rojas
M Spesny
S Baharloo
K Blankenship
A Peterson
D Tyler
N Shimayoshi
C Tobey
S Batki
S Vinogradov
L Meza
A Gallegos
E Fournier
L B Smith
S H Barondes
L A Sandkuijl
N B Freimer
Erasmus University Rotterdam · NL

Funding

GENETIC &EPIDEMIOLOGIC STUDIES OF BIPOLAR DISORDERR01MH049499 · NIMH · UNIVERSITY OF CALIFORNIA SAN FRANCISCO · PI FREIMER, NELSON B · 1992 to 2006
$2.9M
MOLECULAR GENETICS OF X-LINKED BIPOLAR DISORDERK21MH000916 · NIMH · UNIVERSITY OF CALIFORNIA SAN FRANCISCO · PI FREIMER, NELSON B · 1991 to 1995
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INVESTIGATING COSTA RICAN FAMILIES FOR BIPOLAR DISORDERR03MH048695 · NIMH · UNIVERSITY OF CALIFORNIA SAN FRANCISCO · PI FREIMER, NELSON B · 1992 to 1993
–
NIMH NIH HHS MH00916NIMH NIH HHS MH48695NIMH NIH HHS MH49499NIMH NIH HHS R01 MH049499
6 · The paper itself

Abstract

Bipolar mood disorder (BP) is a debilitating syndrome characterized by episodes of mania and depression. We designed a multistage study to detect all major loci predisposing to severe BP (termed BP-I) in two pedigrees drawn from the Central Valley of Costa Rica, where the population is largely descended from a few founders in the 16th-18th centuries. We considered only individuals with BP-I as affected and screened the genome for linkage with 473 microsatellite markers. We used a model for linkage analysis that incorporated a high phenocopy rate and a conservative estimate of penetrance. Our goal in this study was not to establish definitive linkage but rather to detect all regions possibly harboring major genes for BP-I in these pedigrees. To facilitate this aim, we evaluated the degree to which markers that were informative in our data set provided coverage of each genome region; we estimate that at least 94% of the genome has been covered, at a predesignated threshold determined through prior linkage simulation analyses. We report here the results of our genome screen for BP-I loci and indicate several regions that merit further study, including segments in 18q, 18p, and 11p, in which suggestive lod scores were observed for two or more contiguous markers. Isolated lod scores that exceeded our thresholds in one or both families also occurred on chromosomes 1, 2, 3, 4, 5, 7, 13, 15, 16, and 17. Interesting regions highlighted in this genome screen will be followed up using linkage disequilibrium (LD) methods.

Indexed as

Chromosomes, Human, Pair 18Genome, HumanBipolar DisorderChromosome MappingCosta RicaFemaleGenes, DominantGenetic LinkageGenetic MarkersHumansLod ScoreMaleMicrosatellite RepeatsModels, GeneticPedigreeGenetic Markers

Identifiers

PMID8917544
PMCPMC24046
OpenAlexW2123333307

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.