Evidence map›Paper›PMID 14750073›Full record

ArticleAmerican journal of human genetics2004

Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1.

Gonçalo R Abecasis, Rachel A Burt, Diana Hall, Sylvia Bochum, Kimberly F Doheny, S Laura Lundy, Marie Torrington, J Louw Roos, Joseph A Gogos, Maria Karayiorgou

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed, 1 pooled it
5.1field-weighted citation impact, top 4% 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

30 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Fine mapping on chromosome 13q32-34 and brain expression analysis implicates MYO16 in schizophrenia.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2014
    Article
  10. Article
  11. Article
  12. Article
  13. G72 influences longitudinal change in frontal lobe volume in schizophrenia.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2010
    Article
  14. Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans.Proceedings of the National Academy of Sciences of the United States of America · 2009
    Article
  15. Article
  16. Article
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  18. Article
  19. Article
  20. Consistently replicating locus linked to migraine on 10q22-q23.American journal of human genetics · 2008
    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

10 authors at 5 institutions in 2 countries.

Gonçalo R AbecasisDepartment of Biostatistics, University of Michigan, Ann Arbor, MI, USA.
Rachel A Burt
Diana Hall
Sylvia Bochum
Kimberly F Doheny
S Laura Lundy
Marie Torrington
J Louw Roos
Joseph A Gogos
Maria Karayiorgou
Rockefeller University · USUniversity of Michigan–Ann Arbor · USUniversity of Pretoria · ZAColumbia University · USJohns Hopkins University · US

Funding

MAPPING GENES FOR SCHIZOPHRENIA IN FOUNDER POPULATIONSR01MH061399 · NIMH · ROCKEFELLER UNIVERSITY · PI KARAYIORGOU, MARIA · 2000 to 2014
$7.1M
GENOTYPING FOR LOCATING HUMAN DISEASE GENESN01HG065403 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID L · 1996 to 2000
$1.7M
NHGRI NIH HHS N01 HG065403NIMH NIH HHS MH61399NIMH NIH HHS R01 MH061399
6 · The paper itself

Abstract

We report on our initial genetic linkage studies of schizophrenia in the genetically isolated population of the Afrikaners from South Africa. A 10-cM genomewide scan was performed on 143 small families, 34 of which were informative for linkage. Using both nonparametric and parametric linkage analyses, we obtained evidence for a small number of disease loci on chromosomes 1, 9, and 13. These results suggest that few genes of substantial effect exist for schizophrenia in the Afrikaner population, consistent with our previous genealogical tracing studies. The locus on chromosome 1 reached genomewide significance levels (nonparametric LOD score of 3.30 at marker D1S1612, corresponding to an empirical P value of.012) and represents a novel susceptibility locus for schizophrenia. In addition to providing evidence for linkage for chromosome 1, we also identified a proband with a uniparental disomy (UPD) of the entire chromosome 1. This is the first time a UPD has been described in a patient with schizophrenia, lending further support to involvement of chromosome 1 in schizophrenia susceptibility in the Afrikaners.

Indexed as

Chromosomes, Human, Pair 1Founder EffectUniparental DisomyChromosome MappingFemaleGenetic LinkageHumansLod ScoreMalePedigreeSchizophreniaSouth AfricaStatistics, NonparametricWhite People

Identifiers

PMID14750073
PMCPMC1182255
OpenAlexW2157211482

What OpenQuestion holds

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Registered trials

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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.