Evidence map›Paper›PMID 14872409›Full record

ArticleAmerican journal of human genetics2004

Assessing whether an allele can account in part for a linkage signal: the Genotype-IBD Sharing Test (GIST).

Chun Li, Laura J Scott, Michael Boehnke

Abstract 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 29 papers.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed
–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

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

29 citing papers in PubMed.

  1. Trial
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  8. Allelic variants in HTR3C show association with autism.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2009
    Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Common variation in the BRCA1 gene and prostate cancer risk.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2007
    Article
  14. Article
  15. Article
  16. Article
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  18. Article
  19. Genetics of type 2 diabetes.Current diabetes reports · 2006
    Review
  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

3 authors.

Chun LiCenter for Human Genetics Research, Vanderbilt University, Nashville, TN 37232-0700, USA. chun.li@vanderbilt.edu
Laura J Scott
Michael Boehnke

Funding

Identifying Genes for Type 2 Diabetes: FUSIONU01DK062370 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L, SCOTT, LAURA J. · 2009 to 2021
$11.6M
Identifying Genes for Type 2 Diabetes:FUSIONR01DK062370 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L, SCOTT, LAURA J. · 2003 to 2025
$6.7M
DESIGN AND ANALYSIS OF HUMAN GENE MAPPING STUDIESR01HG000376 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L · 1993 to 2016
$5.5M
Identifying Genes for Type 2 Diabetes: FUSIONR56DK062370 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L · 2008 to 2008
$500k
Early Pesticide Exposure and Neurodevelopmental Outcomes in a Thai Birth CohortR21ES015465 · NIEHS · EMORY UNIVERSITY · PI RYAN, P. BARRY · 2009 to 2010
$276k
DESIGN ISSUES IN GENETIC LINKAGE AND SEGREGATION STUDIESR29HG000376 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL · 1990 to 1992
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NHGRI NIH HHS HG00376NHGRI NIH HHS N01-HG-15465NHGRI NIH HHS R01 HG000376NIDDK NIH HHS DK62370NIDDK NIH HHS R01 DK062370NIDDK NIH HHS R56 DK062370NIDDK NIH HHS U01 DK062370NIEHS NIH HHS N01 HG015465
6 · The paper itself

Abstract

To fine map genes, investigators often test for disease-marker association in chromosomal regions with evidence for linkage. Given a marker allele tentatively associated with disease, one would ask if this allele, or one in linkage disequilibrium (LD) with it, could account in part for the observed linkage signal. This question can be addressed by determining if families selected on the basis of the presence of the tentatively associated allele show stronger evidence of linkage as measured by increased allele sharing identical by descent (IBD) by affected family members. However, common selection strategies can be biased for or against linkage in the marker region, even given no disease-marker association. We define unbiased selection schemes and extend the definition to allow weighted selection on the basis of all genotyped family members. For affected-sibship data, we describe three genotype-based weight variables, corresponding to dominant, recessive, and additive models. We then introduce a test for association of a family weight variable with excess IBD sharing. This test allows us to determine if the linkage signal in a region can be attributed in part to the presence of a marker allele, either because of direct involvement in disease etiology or because of LD with a predisposing genetic variant. For samples of 500 affected sib pairs, the tests are powerful in detection of genotype-IBD sharing association, even for disease models with sib relative risk as low as lambda S=1.1, or when evidence for linkage is absent because of sampling variation. This makes our method a new tool for detecting linkage as well as association, especially in regions harboring a candidate gene. We have implemented these methods in the software package GIST (Genotype-IBD Sharing Test).

Indexed as

Data Interpretation, StatisticalGenetic LinkageSoftwareComputer SimulationGenetic MarkersGenetics, MedicalGenotypeHumansGenetic Markers

Identifiers

PMID14872409
PMCPMC1182256

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.