Evidence map›Paper›PMID 24475218›Full record

ArticlePloS one2014

Impact of measurement error on testing genetic association with quantitative traits.

Jiemin Liao, Xiang Li, Tien-Yin Wong, Jie Jin Wang, Chiea Chuen Khor, E Shyong Tai, Tin Aung, Yik-Ying Teo, Ching-Yu Cheng

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2014. 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
0.9field-weighted citation impact, top 22% 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

13 citing papers in PubMed, 15 citations in OpenAlex.

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  9. Examining sex differences in pleiotropic effects for depression and smoking using polygenic and gene-region aggregation techniques.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2019
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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

9 authors at 7 institutions in 2 countries.

Jiemin LiaoDepartment of Ophthalmology, National University of Singapore and National University Health System, Singapore, Singapore ; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Xiang LiSingapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore ; Department of Statistics and Applied Probability, National University of Singapore, Singapore, Singapore.
Tien-Yin WongDepartment of Ophthalmology, National University of Singapore and National University Health System, Singapore, Singapore ; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore ; Saw Swee Hock School of Public Health, National University Health System, National University of Singapore, Singapore, Singapore.
Jie Jin WangCentre for Vision Research, University of Sydney, Sydney, Australia.
Chiea Chuen KhorDepartment of Ophthalmology, National University of Singapore and National University Health System, Singapore, Singapore ; Division of Human Genetics, Genome Institute of Singapore, Singapore, Singapore.
E Shyong TaiSaw Swee Hock School of Public Health, National University Health System, National University of Singapore, Singapore, Singapore ; Department of Medicine, National University of Singapore and National University Health System, Singapore, Singapore ; Duke-NUS Graduate Medical School, Singapore, Singapore.
Tin AungDepartment of Ophthalmology, National University of Singapore and National University Health System, Singapore, Singapore ; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Yik-Ying TeoDepartment of Statistics and Applied Probability, National University of Singapore, Singapore, Singapore ; Saw Swee Hock School of Public Health, National University Health System, National University of Singapore, Singapore, Singapore.
Ching-Yu ChengDepartment of Ophthalmology, National University of Singapore and National University Health System, Singapore, Singapore ; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore ; Saw Swee Hock School of Public Health, National University Health System, National University of Singapore, Singapore, Singapore ; Duke-NUS Graduate Medical School, Singapore, Singapore.
National University of Singapore · SGDuke-NUS Medical School · SGGenome Institute of Singapore · SGNational University Health System · SGSingapore Eye Research Institute · SGSingapore National Eye Center · SGUniversity of Sydney · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Measurement error of a phenotypic trait reduces the power to detect genetic associations. We examined the impact of sample size, allele frequency and effect size in presence of measurement error for quantitative traits. The statistical power to detect genetic association with phenotype mean and variability was investigated analytically. The non-centrality parameter for a non-central F distribution was derived and verified using computer simulations. We obtained equivalent formulas for the cost of phenotype measurement error. Effects of differences in measurements were examined in a genome-wide association study (GWAS) of two grading scales for cataract and a replication study of genetic variants influencing blood pressure. The mean absolute difference between the analytic power and simulation power for comparison of phenotypic means and variances was less than 0.005, and the absolute difference did not exceed 0.02. To maintain the same power, a one standard deviation (SD) in measurement error of a standard normal distributed trait required a one-fold increase in sample size for comparison of means, and a three-fold increase in sample size for comparison of variances. GWAS results revealed almost no overlap in the significant SNPs (p<10(-5)) for the two cataract grading scales while replication results in genetic variants of blood pressure displayed no significant differences between averaged blood pressure measurements and single blood pressure measurements. We have developed a framework for researchers to quantify power in the presence of measurement error, which will be applicable to studies of phenotypes in which the measurement is highly variable.

Indexed as

Models, GeneticQuantitative Trait, HeritableAllelesBiasCataractComputer SimulationGene FrequencyGenome-Wide Association StudyGenotypeHumansHypertensionPhenotypePolymorphism, Single NucleotideQuantitative Trait Loci

Identifiers

PMID24475218
PMCPMC3901720
OpenAlexW2012299779

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.