Evidence map›Paper›PMID 14752704›Full record

ArticleAmerican journal of human genetics2004

Increasing the power and efficiency of disease-marker case-control association studies through use of allele-sharing information.

Tasha E Fingerlin, Michael Boehnke, Gonçalo R Abecasis

Abstract readComparative Study
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 31 papers.

0numbers the graph read from it
0cells of the map it votes in
31citing 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

31 citing papers in PubMed.

  1. Article
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  6. Sampling strategies for rare variant tests in case-control studies.European journal of human genetics : EJHG · 2012
    Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Family-based samples can play an important role in genetic association studies.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2008
    Article
  12. NYD-SP18 is associated with obesity in the NHLBI Family Heart Study.International journal of obesity (2005) · 2008
    Article
  13. Article
  14. Mapping quantitative trait loci for canine hip dysplasia in German Shepherd dogs.Mammalian genome : official journal of the International Mammalian Genome Society · 2007
    Article
  15. Article
  16. Article
  17. Article
  18. 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

3 authors.

Tasha E FingerlinDepartment of Epidemiology, School of Public Health, and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA. Tasha.Fingerlin@uchsc.edu
Michael Boehnke
Gonçalo R Abecasis

Funding

University of Michigan Training Program in Genomic ScienceT32HG000040 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Sebastian Zoellner · 1995 to 2026
$16.4M
DESIGN AND ANALYSIS OF HUMAN GENE MAPPING STUDIESR01HG000376 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L · 1993 to 2016
$5.5M
Computational and Statistical Models for Human PedigreesR01HG002651 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2003 to 2008
$2.9M
DESIGN ISSUES IN GENETIC LINKAGE AND SEGREGATION STUDIESR29HG000376 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL · 1990 to 1992
–
The Lowe Oculocerebrorenal SyndromeZ01HG000040 · NHGRI · HUMAN GENOME RESEARCH · PI NUSSBAUM, ROBERT L · 1995 to 2005
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Intramural NIH HHS Z01 HG000040NHGRI NIH HHS HG00376NHGRI NIH HHS HG02651NHGRI NIH HHS R01 HG000376NHGRI NIH HHS R01 HG002651NHGRI NIH HHS T32 HG000040
6 · The paper itself

Abstract

Case-control disease-marker association studies are often used in the search for variants that predispose to complex diseases. One approach to increasing the power of these studies is to enrich the case sample for individuals likely to be affected because of genetic factors. In this article, we compare three case-selection strategies that use allele-sharing information with the standard strategy that selects a single individual from each family at random. In affected sibship samples, we show that, by carefully selecting sibships and/or individuals on the basis of allele sharing, we can increase the frequency of disease-associated alleles in the case sample. When these cases are compared with unrelated controls, the difference in the frequency of the disease-associated allele is therefore also increased. We find that, by choosing the affected sib who shows the most evidence for pairwise allele sharing with the other affected sibs in families, the test statistic is increased by >20%, on average, for additive models with modest genotype relative risks. In addition, we find that the per-genotype information associated with the allele sharing-based strategies is increased compared with that associated with random selection of a sib for genotyping. Even though we select sibs on the basis of a nonparametric statistic, the additional gain for selection based on the unknown underlying mode of inheritance is minimal. We show that these properties hold even when the power to detect linkage to a region in the entire sample is negligible. This approach can be extended to more-general pedigree structures and quantitative traits.

Indexed as

Case-Control StudiesData Interpretation, StatisticalGenetic Diseases, InbornAllelesGenetic MarkersHumansGenetic Markers

Identifiers

PMID14752704
PMCPMC1182257

What OpenQuestion holds

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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.