Evidence map›Paper›PMID 27809761›Full record

ArticleBMC genomics2016

Leveraging genetically simple traits to identify small-effect variants for complex phenotypes.

K E Kemper, M D Littlejohn, T Lopdell, B J Hayes, L E Bennett, R P Williams, X Q Xu, P M Visscher, M J Carrick, M E Goddard

Open access · goldAbstract read
In one paragraph

Article in BMC genomics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 1 pooled it
8.4field-weighted citation impact, top 2% 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

25 citing papers in PubMed, 1 synthesis or guideline pooled it, 123 citations in OpenAlex.

  1. Pooled it
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  14. Quantifying the contribution of sequence variants with regulatory and evolutionary significance to 34 bovine complex traits.Proceedings of the National Academy of Sciences of the United States of America · 2019
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  19. WidespreadRNA (New York, N.Y.) · 2019
    Article
  20. Multiple QTL underlie milk phenotypes at the CSF2RB locus.Genetics, selection, evolution : GSE · 2019
    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

10 authors at 7 institutions in 2 countries.

K E KemperFaculty of Veterinary and Agricultural Sciences, University of Melbourne, Royal Parade, Parkville, Victoria, 3052, Australia.
M D LittlejohnLivestock Improvement Corporation, Cnr Ruakura and Morrinsville Roads, Newstead, Hamilton, 3240, New Zealand.
T LopdellLivestock Improvement Corporation, Cnr Ruakura and Morrinsville Roads, Newstead, Hamilton, 3240, New Zealand.
B J HayesAgriBio, Centre for AgriBioscience, Department of Economic Development, Jobs, Transport and Resources, Bundoora, Victoria, Australia. ben.hayes@ecodev.vic.gov.au.
L E BennettCSIRO Agriculture and Food, Sneydes Road, Werribee, Victoria, 3030, Australia.
R P WilliamsCSIRO Agriculture and Food, Sneydes Road, Werribee, Victoria, 3030, Australia.
X Q XuCSIRO Agriculture and Food, Sneydes Road, Werribee, Victoria, 3030, Australia.
P M VisscherQueensland Brain Institute, University of Queensland, St Lucia, Queensland, 4072, Australia.
M J CarrickBerghan Carrick Consulting, Moonee Ponds, 3039, Australia.
M E GoddardFaculty of Veterinary and Agricultural Sciences, University of Melbourne, Royal Parade, Parkville, Victoria, 3052, Australia.
Agriculture and Food · AUUniversity of Melbourne · AUAgriBio · AUCommonwealth Scientific and Industrial Research Organisation · AULivestock Improvement Corporation · NZUniversity of Auckland · NZUniversity of Queensland · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPolymorphisms underlying complex traits often explain a small part (less than 1 %) of the phenotypic variance (σ

resultsQuantitative trait loci (QTL) were identified using 11,527 Holstein cattle with milk production records and up to 444 cows with milk composition traits. There were eight regions that contained QTL for both milk production and a composition trait, including four novel regions. One region on BTAU1 affected both milk yield and phosphorous concentration in milk. The QTL interval included the gene SLC37A1, a phosphorous antiporter. The most significant imputed sequence variants in this region explained 0.001 σ

conclusionsMilk production traits in dairy cows are typical complex traits where polymorphisms explain only a small portion of the phenotypic variance. However, here we show that these mutations can have larger effects on secondary traits, such as concentrations of minerals, proteins and sugars in the milk, and expression levels of genes in mammary tissue. These larger effects were used to successfully map variants for milk production traits. Genetically simple traits also provide a direct biological link between possible causal mutations and the effect of these mutations on milk production.

Indexed as

Genetic Association StudiesGenetic VariationPhenotypeQuantitative Trait, HeritableAnimalsCattleGene ExpressionMilkQuantitative Trait LociSequence Analysis, DNAComplex traitsGene expressionPleiotropyQTL mapping

Identifiers

PMID27809761
PMCPMC5094043
OpenAlexW2546472742

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LicenceCC BY
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Registered trials

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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.