Evidence map›Paper›PMID 21427758›Full record

ArticleEuropean journal of human genetics : EJHG2011

Bivariate association analysis in selected samples: application to a GWAS of two bone mineral density phenotypes in males with high or low BMD.

Aude Saint-Pierre, Jean-Marc Kaufman, Agnes Ostertag, Martine Cohen-Solal, Anne Boland, Kaatje Toye, Diana Zelenika, Mark Lathrop, Marie-Christine de Vernejoul, Maria Martinez

Abstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
–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.

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3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 1 synthesis or guideline pooled it.

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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

10 authors.

Aude Saint-PierreINSERM U563, Toulouse, France. aude.saint-pierre@inserm.fr
Jean-Marc Kaufman
Agnes Ostertag
Martine Cohen-Solal
Anne Boland
Kaatje Toye
Diana Zelenika
Mark Lathrop
Marie-Christine de Vernejoul
Maria Martinez

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Our specific aims were to evaluate the power of bivariate analysis and to compare its performance with traditional univariate analysis in samples of unrelated subjects under varying sampling selection designs. Bivariate association analysis was based on the seemingly unrelated regression (SUR) model that allows different genetic models for different traits. We conducted extensive simulations for the case of two correlated quantitative phenotypes, with the quantitative trait locus making equal or unequal contributions to each phenotype. Our simulation results confirmed that the power of bivariate analysis is affected by the size, direction and source of the phenotypic correlations between traits. They also showed that the optimal sampling scheme depends on the size and direction of the induced genetic correlation. In addition, we demonstrated the efficacy of SUR-based bivariate test by applying it to a real Genome-Wide Association Study (GWAS) of Bone Mineral Density (BMD) values measured at the lumbar spine (LS) and at the femoral neck (FN) in a sample of unrelated males with low BMD (LS Z-scores ≤ -2) and with high BMD (LS and FN Z-scores >0.5). A substantial amount of top hits in bivariate analysis did not reach nominal significance in any of the two single-trait analyses. Altogether, our studies suggest that bivariate analysis is of practical significance for GWAS of correlated phenotypes.

Indexed as

Polymorphism, Single NucleotideQuantitative Trait LociAdolescentAdultAgedBone DensityComputer SimulationFemur NeckGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLumbar VertebraeMaleMiddle AgedMultivariate AnalysisPhenotype

Identifiers

PMID21427758
PMCPMC3110051

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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.