Evidence map›Paper›PMID 12929084›Full record

ArticleAmerican journal of human genetics2003

Novel case-control test in a founder population identifies P-selectin as an atopy-susceptibility locus.

Catherine Bourgain, Sabine Hoffjan, Raluca Nicolae, Dina Newman, Lori Steiner, Karen Walker, Rebecca Reynolds, Carole Ober, Mary Sara McPeek

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
88citing papers in PubMed, 1 pooled it
7.4field-weighted citation impact, top 2% 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

88 citing papers in PubMed, 1 synthesis or guideline pooled it, 155 citations in OpenAlex.

  1. Genetic studies of stuttering in a founder population.Journal of fluency disorders · 2007
    Pooled it
  2. Article
  3. To Modify or Not to Modify: Allele-Specific Effects of 3'UTR-Journal of the American Heart Association · 2022
    Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Review
  17. Article
  18. Article
  19. Article
  20. Article

28 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

9 authors at 1 institution in 1 country.

Catherine BourgainDepartment of Human Genetics, University of Chicago, Chicago, IL, USA. bourgain@vjf.inserm.fr
Sabine Hoffjan
Raluca Nicolae
Dina Newman
Lori Steiner
Karen Walker
Rebecca Reynolds
Carole Ober
Mary Sara McPeek
University of Chicago · US

Funding

T CELL CO-STIMULATION IN ALLERGIC ASTHMAP50HL056399 · NHLBI · UNIVERSITY OF CHICAGO · PI OBER, CAROLE · 1996 to 2005
$9.1M
Methods for Human Genetic MappingR01HG001645 · NHGRI · UNIVERSITY OF CHICAGO · PI MCPEEK, MARY SARA · 2003 to 2023
$6.8M
Robust Methods for Indentifying Genes for Complex TraitsR01DK055889 · NIDDK · UNIVERSITY OF CHICAGO · PI COX, NANCY J. · 1998 to 2004
$1.3M
METHODS FOR HUMAN GENETIC LINKAGE MAPPINGR29HG001645 · NHGRI · UNIVERSITY OF CHICAGO · PI MCPEEK, MARY SARA · 1997 to 2001
$126k
NHGRI NIH HHS HG001645NHGRI NIH HHS R01 HG001645NHGRI NIH HHS R29 HG001645NHLBI NIH HHS HL56399NHLBI NIH HHS HL63533NHLBI NIH HHS P50 HL056399NIDDK NIH HHS DK55889NIDDK NIH HHS R01 DK055889
6 · The paper itself

Abstract

To avoid problems related to unknown population substructure, association studies may be conducted in founder populations. In such populations, however, the relatedness among individuals may be considerable. Neglecting such correlations among individuals can lead to seriously spurious associations. Here, we propose a method for case-control association studies of binary traits that is suitable for any set of related individuals, provided that their genealogy is known. Although we focus here on large inbred pedigrees, this method may also be used in outbred populations for case-control studies in which some individuals are relatives. We base inference on a quasi-likelihood score (QLS) function and construct a QLS test for allelic association. This approach can be used even when the pedigree structure is far too complex to use an exact-likelihood calculation. We also present an alternative approach to this test, in which we use the known genealogy to derive a correction factor for the case-control association chi2 test. We perform analytical power calculations for each of the two tests by deriving their respective noncentrality parameters. The QLS test is more powerful than the corrected chi2 test in every situation considered. Indeed, under certain regularity conditions, the QLS test is asymptotically the locally most powerful test in a general class of linear tests that includes the corrected chi2 test. The two methods are used to test for associations between three asthma-associated phenotypes and 48 SNPs in 35 candidate genes in the Hutterites. We report a highly significant novel association (P=2.10-6) between atopy and an amino acid polymorphism in the P-selectin gene, detected with the QLS test and also, but less significantly (P=.0014), with the transmission/disequilibrium test.

Indexed as

Genetic Predisposition to DiseaseAllelesAsthmaCase-Control StudiesFounder EffectGenetic TechniquesHumansP-SelectinStatistics as TopicP-Selectin

Identifiers

PMID12929084
PMCPMC1180685
OpenAlexW2092987741

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.