Evidence map›Paper›PMID 31099385›Full record

ArticleBioinformatics (Oxford, England)2019

Multi-SNP mediation intersection-union test.

Wujuan Zhong, Cassandra N Spracklen, Karen L Mohlke, Xiaojing Zheng, Jason Fine, Yun Li

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Causal Mediation Analysis for Integrating Exposure, Genomic, and Phenotype Data.Annual review of statistics and its application · 2025
    Article
  2. Hypothesis Tests of Indirect Effects for Multiple Mediators.Statistical methods & applications · 2025
    Article
  3. Artificial intelligence for dementia genetics and omics.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023
    Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Article
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

6 authors.

Wujuan ZhongDepartment of Biostatistics, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Cassandra N SpracklenDepartment of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Karen L MohlkeDepartment of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Xiaojing ZhengDepartment of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Jason FineDepartment of Biostatistics, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Yun LiDepartment of Biostatistics, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

Funding

Genetic epidemiology of rare and regulatory variants for metabolic traitsR01DK093757 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KAREN L. MOHLKE · 2011 to 2026
$8.2M
Genetic Studies of Blood Cell Traits in Multi-Ethnic CohortsR01HL129132 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI LI, YUN, REINER, ALEXANDER P · 2016 to 2019
$2.7M
NHLBI NIH HHS R01 HL129132NIDDK NIH HHS R01 DK093757
6 · The paper itself

Abstract

summaryTens of thousands of reproducibly identified GWAS (Genome-Wide Association Studies) variants, with the vast majority falling in non-coding regions resulting in no eventual protein products, call urgently for mechanistic interpretations. Although numerous methods exist, there are few, if any methods, for simultaneously testing the mediation effects of multiple correlated SNPs via some mediator (e.g. the expression of a gene in the neighborhood) on phenotypic outcome. We propose multi-SNP mediation intersection-union test (SMUT) to fill in this methodological gap. Our extensive simulations demonstrate the validity of SMUT as well as substantial, up to 92%, power gains over alternative methods. In addition, SMUT confirmed known mediators in a real dataset of Finns for plasma adiponectin level, which were missed by many alternative methods. We believe SMUT will become a useful tool to generate mechanistic hypotheses underlying GWAS variants, facilitating functional follow-up. AVAILABILITY AND IMPLEMENTATION: The R package SMUT is publicly available from CRAN at https://CRAN.R-project.org/package=SMUT. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Indexed as

Genome-Wide Association StudyPolymorphism, Single NucleotideSoftware

Identifiers

PMID31099385
PMCPMC6853702

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.