Evidence map›Paper›PMID 25278384›Full record

ArticleVeterinary journal (London, England : 1997)2014

Risk of false positive genetic associations in complex traits with underlying population structure: a case study.

Carrie J Finno, Monica Aleman, Robert J Higgins, John E Madigan, Danika L Bannasch

Abstract read
In one paragraph

Article in Veterinary journal (London, England : 1997), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
1.2field-weighted citation impact, top 20% 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

17 citing papers in PubMed, 32 citations in OpenAlex.

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  8. Comparative medicine · 2020
    Article
  9. Appraisal of wheat genomics for gene discovery and breeding applications: a special emphasis on advances in Asia.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2020
    Review
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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.

Carrie J FinnoDepartment of Population Health and Reproduction, University of California, Davis, CA 95616, USA. Electronic address: cjfinno@ucdavis.edu.
Monica AlemanDepartment of Medicine and Epidemiology, University of California, Davis, CA 95616, USA.
Robert J HigginsDepartment of Pathology, Microbiology and Immunology, University of California, Davis, CA 95616, USA.
John E MadiganDepartment of Medicine and Epidemiology, University of California, Davis, CA 95616, USA.
Danika L BannaschDepartment of Population Health and Reproduction, University of California, Davis, CA 95616, USA.
University of California, Davis · US

Funding

Training Program in Basic and Clinical Communication ScienceT32DC008072 · NIDCD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI YAMOAH, EBENEZER N · 2008 to 2012
$939k
Molecular pathogenesis of alpha-tocopherol associated neuroaxonal dystrophy in anK01OD015134 · OD · UNIVERSITY OF MINNESOTA · PI FINNO, CARRIE · 2013 to 2017
$599k
NCATS NIH HHS L40 TR001136NIDCD NIH HHS 5 T32DC 8072-3NIDCD NIH HHS T32 DC008072NIH HHS K01 OD015134
6 · The paper itself

Abstract

Genome-wide association (GWA) studies are widely used to investigate the genetic etiology of diseases in domestic animals. In the horse, GWA studies using 40-50,000 single nucleotide polymorphisms (SNPs) in sample sizes of 30-40 individuals, consisting of only 6-14 affected horses, have led to the discovery of genetic mutations for simple monogenic traits. Equine neuroaxonal dystrophy is a common inherited neurological disorder characterized by symmetric ataxia. A case-control GWA study was performed using genotypes from 42,819 SNP marker loci distributed across the genome in 99 clinically phenotyped Quarter horses (37 affected, 62 unaffected). A significant GWA was not achieved although a suggestive association was uncovered when only the most stringently phenotyped NAD-affected horses (n = 10) were included (chromosome 8:62130605 and 62134644 [log(1/P) = 5.56]). Candidate genes (PIK3C3, RIT2, and SYT4) within the associated region were excluded through sequencing, association testing of uncovered variants and quantitative RT-PCR. It was concluded that variants in PIK3C3, RIT2, and SYT4 are not responsible for equine neuroaxonal dystrophy. This study demonstrates the risk of false positive associations when performing GWA studies on complex traits and underlying population structure when using 40-50,000 SNP markers and small sample size.

Indexed as

Polymorphism, Single NucleotideAnimalsFemaleGenome-Wide Association StudyGenotypeHorse DiseasesHorsesMaleNeuroaxonal DystrophiesRiskEquine degenerative myeloencephalopathyHorse genomeSingle nucleotide polymorphismsVitamin E

Identifiers

PMID25278384
PMCPMC4337777
OpenAlexW1982830074

What OpenQuestion holds

Textmetadata
LicenceTDM
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.