Evidence map›Paper›PMID 19208180›Full record

ArticleBMC bioinformatics2009

Detecting disease-associated genotype patterns.

Quan Long, Qingrun Zhang, Jurg Ott

Abstract read
In one paragraph

Article in BMC bioinformatics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing 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

13 citing papers in PubMed.

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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.

Quan LongBeijing Institute of Genomics, Chinese Academy of Sciences, No, 7 Bei Tu Cheng West Road, Beijing 100029, PR China. ql2@sanger.ac.uk
Qingrun Zhang
Jurg Ott

Funding

LINKAGE ANALYSIS METHODS IN SCHIZOPHRENIAR01MH044292 · NIMH · ROCKEFELLER UNIVERSITY · PI OTT, JURG · 1989 to 2008
$1.3M
LINKAGE ANALYSIS METHODS IN SCHIZOPHRENIAR37MH044292 · NIMH · ROCKEFELLER UNIVERSITY · PI OTT, JURG · 1993 to 2002
$788k
NIMH NIH HHS MH44292NIMH NIH HHS R01 MH044292NIMH NIH HHS R37 MH044292
6 · The paper itself

Abstract

backgroundIn addition to single-locus (main) effects of disease variants, there is a growing consensus that gene-gene and gene-environment interactions may play important roles in disease etiology. However, for the very large numbers of genetic markers currently in use, it has proven difficult to develop suitable and efficient approaches for detecting effects other than main effects due to single variants.

resultsWe developed a method for jointly detecting disease-causing single-locus effects and gene-gene interactions. Our method is based on finding differences of genotype pattern frequencies between case and control individuals. Those single-nucleotide polymorphism markers with largest single-locus association test statistics are included in a pattern. For a logistic regression model comprising three disease variants exerting main and epistatic interaction effects, we demonstrate that our method is vastly superior to the traditional approach of looking for single-locus effects. In addition, our method is suitable for estimating the number of disease variants in a dataset. We successfully apply our approach to data on Parkinson Disease and heroin addiction.

conclusionOur approach is suitable and powerful for detecting disease susceptibility variants with potentially small main effects and strong interaction effects. It can be applied to large numbers of genetic markers.

Indexed as

GenotypeComputer SimulationGenetic MarkersGenetic Predisposition to DiseaseHumansPolymorphism, Single NucleotideGenetic Markers

Identifiers

PMID19208180
PMCPMC2648768

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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.