Evidence map›Paper›PMID 11032785›Full record

ArticleAmerican journal of human genetics2000

Linkage disequilibrium analysis of biallelic DNA markers, human quantitative trait loci, and threshold-defined case and control subjects.

N J Schork, S K Nath, D Fallin, A Chakravarti

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
40citing papers in PubMed, 3 pooled it
3.5field-weighted citation impact, top 8% 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

40 citing papers in PubMed, 3 syntheses or guidelines pooled it, 86 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Dopamine genes and nicotine dependence in treatment-seeking and community smokers.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2009
    Trial
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  9. Genetic implication of a novel thiamine transporter in human hypertension.Journal of the American College of Cardiology · 2014
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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

4 authors at 1 institution in 1 country.

N J SchorkDepartment of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44109, USA. njs2@po.cwru.edu
S K Nath
D Fallin
A Chakravarti
Case Western Reserve University · US

Funding

X-LINKED EXTENSION OF THE REVISED HASEMAN-ELSTON ALGORITHM FOR LINKAGE ANALYSISP41RR003655 · NCRR · LOUISIANA STATE UNIV HSC NEW ORLEANS · PI ELSTON, ROBERT C. · 1987 to 2011
$11.5M
SCOR-MOLECULAR GENTICS OF HYPERTENSIONP50HL054998 · NHLBI · MEDICAL COLLEGE OF WISCONSIN · PI TONELLATO, PETER J. · 1996 to 2005
$8.1M
NCRR NIH HHS P41 RR003655NCRR NIH HHS RR03655-11NHLBI NIH HHS HL54998-01NHLBI NIH HHS P50 HL054998
6 · The paper itself

Abstract

Linkage disequilibrium (LD) mapping has been applied to many simple, monogenic, overtly Mendelian human traits, with great success. However, extensions and applications of LD mapping approaches to more complex human quantitative traits have not been straightforward. In this article, we consider the analysis of biallelic DNA marker loci and human quantitative trait loci in settings that involve sampling individuals from opposite ends of the trait distribution. The purpose of this sampling strategy is to enrich samples for individuals likely to possess (and not possess) trait-influencing alleles. Simple statistical models for detecting LD between a trait-influencing allele and neighboring marker alleles are derived that make use of this sampling scheme. The power of the proposed method is investigated analytically for some hypothetical gene-effect scenarios. Our studies indicate that LD mapping of loci influencing human quantitative trait variation should be possible in certain settings. Finally, we consider possible extensions of the proposed methods, as well as areas for further consideration and improvement.

Indexed as

AllelesQuantitative Trait, HeritableCase-Control StudiesChromosome MappingComputer SimulationGene FrequencyGenes, DominantGenes, RecessiveGenetic MarkersHaplotypesHumansLinkage DisequilibriumModels, GeneticSample SizeSoftwareGenetic Markers

Identifiers

PMID11032785
PMCPMC1288563
OpenAlexW2040335529

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.