Evidence map›Paper›PMID 19102730›Full record

ArticleBMC genetics2008

A systematic search for SNPs/haplotypes associated with disease phenotypes using a haplotype-based stepwise procedure.

Yin Yang, Shuying Sue Li, Jason W Chien, Jessica Andriesen, Lue Ping Zhao

Open access · diamondAbstract read
In one paragraph

Article in BMC genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
0.8field-weighted citation impact, top 23% 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

11 citing papers in PubMed, 18 citations in OpenAlex.

  1. Superior haplotypes for transforming crop breeding.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2026
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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

5 authors at 1 institution in 1 country.

Yin YangDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave, N, Seattle, WA 98109, USA. yyang2@u.washington.edu
Shuying Sue Li
Jason W Chien
Jessica Andriesen
Lue Ping Zhao
Fred Hutch Cancer Center · US

Funding

Use of Biomarkers in Diagnosis, Prognosis, Risk Prediction and Early Detection ofP01CA053996 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI PRENTICE, ROSS L · 1991 to 2015
$9.4M
Immunogenetics of Cervical and Vulvar CancerR01CA112512 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI SCHWARTZ, STEPHEN M · 2005 to 2009
$3.2M
Methods for Correlating SNP Haplotypes with CancerR01CA106320 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI ZHAO, LUE PING · 2004 to 2008
$1.9M
Genetic epidemiology of TLR4 alleles and bacteremiaK23HL069860 · NHLBI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI CHIEN, JASON W · 2002 to 2006
$776k
NCI NIH HHS 1R01 CA112512-01NCI NIH HHS 5 P01 CA53996-24NCI NIH HHS 5R01 CA106320-05NCI NIH HHS P01 CA053996NCI NIH HHS R01 CA106320NCI NIH HHS R01 CA112512NHLBI NIH HHS K23 HL069860NHLBI NIH HHS K23HL69860
6 · The paper itself

Abstract

backgroundGenotyping technologies enable us to genotype multiple Single Nucleotide Polymorphisms (SNPs) within selected genes/regions, providing data for haplotype association analysis. While haplotype-based association analysis is powerful for detecting untyped causal alleles in linkage-disequilibrium (LD) with neighboring SNPs/haplotypes, the inclusion of extraneous SNPs could reduce its power by increasing the number of haplotypes with each additional SNP.

methodsHere, we propose a haplotype-based stepwise procedure (HBSP) to eliminate extraneous SNPs. To evaluate its properties, we applied HBSP to both simulated and real data, generated from a study of genetic associations of the bactericidal/permeability-increasing (BPI) gene with pulmonary function in a cohort of patients following bone marrow transplantation.

resultsUnder the null hypothesis, use of the HBSP gave results that retained the desired false positive error rates when multiple comparisons were considered. Under various alternative hypotheses, HBSP had adequate power to detect modest genetic associations in case-control studies with 500, 1,000 or 2,000 subjects. In the current application, HBSP led to the identification of two specific SNPs with a positive validation.

conclusionThese results demonstrate that HBSP retains the essence of haplotype-based association analysis while improving analytic power by excluding extraneous SNPs. Minimizing the number of SNPs also enables simpler interpretation and more cost-effective applications.

Indexed as

HaplotypesPolymorphism, Single NucleotideAlgorithmsAllelesCase-Control StudiesCohort StudiesComputer SimulationGene FrequencyGenetic Predisposition to DiseaseGenotypeHumansLinkage DisequilibriumLogistic ModelsModels, StatisticalPhenotype

Identifiers

PMID19102730
PMCPMC2680203
OpenAlexW2162024045

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.