Evidence map›Paper›PMID 2301393›Full record

ArticleAmerican journal of human genetics1990

Linkage strategies for genetically complex traits. II. The power of affected relative pairs.

N Risch

Abstract read
In one paragraph

Article in American journal of human genetics, 1990. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 212 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
212citing papers in PubMed, 1 pooled it
10.2field-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

212 citing papers in PubMed, 1 synthesis or guideline pooled it, 871 citations in OpenAlex.

  1. Pooled it
  2. Article
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  5. Article
  6. Article
  7. The Pathogenesis of Endometriosis: Molecular and Cell Biology Insights.International journal of molecular sciences · 2019
    Review
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  12. Clinical utility of a Web-enabled risk-assessment and clinical decision support program.Genetics in medicine : official journal of the American College of Medical Genetics · 2016
    Article
  13. Article
  14. Review
  15. 2015 Curt Stern Award.American journal of human genetics · 2016
    Article
  16. Article
  17. Article
  18. Human genetics of diabetic retinopathy.Journal of endocrinological investigation · 2014
    Review
  19. Article
  20. Article

152 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

1 author at 1 institution in 1 country.

N RischDepartment of Epidemiology and Public Health, Yale University School of Medicine, New Haven, CT 06510.
Yale University · US

Funding

NIGMS NIH HHS GM39812
6 · The paper itself

Abstract

The power to detect disease-susceptibility loci through linkage analysis using pairs of affected relatives and affected-unaffected pairs is examined. Allelic identity by descent (ibd) for a completely polymorphic marker for sibling, uncle-nephew, grandparent-grandchild, half-sib, and first-cousin pairs is considered. Affected-unaffected pairs generally represent a poor strategy. For single-locus models, ibd depends on lambda R, the risk ratio for type R relatives compared with population prevalence, and the recombination fraction theta. The ibd for grandparent-grandchild pairs is least affected by recombination, followed by sibs, half-sib, uncle-nephew, and first-cousin pairs. For diseases with large lambda values and for small theta values, distant relatives offer greater power. For larger theta values, grandparent-grandchild pairs are best; for small lambda values, sibs are best. Additive and multiplicative multilocus models are considered. For the multiplicative model, the same formulas as in the single-locus model apply, except that lambda iR (for the ith contributing locus) is substituted for lambda R. For the additive model, the deviation from null expectation for ibd is divided among all contributing loci. Compared with the multiplicative model, for an additive model there is usually greater advantage in distant relationships. Multipoint analysis using linked marker loci for affected relative pairs is described. Simultaneous use of multiple markers diminishes the effect of recombination and allows for localization of the disease-susceptibility locus.

Indexed as

Genetic LinkageGenetics, MedicalModels, GeneticModels, StatisticalAllelesFemaleGenetic Diseases, InbornHumansMalePedigreeProbabilityRecombination, Genetic

Identifiers

PMID2301393
PMCPMC1684989
OpenAlexW1641197739

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.