Evidence map›Paper›PMID 32093603›Full record

ArticleGenetics, selection, evolution : GSE2020

An eQTL in the cystathionine beta synthase gene is linked to osteoporosis in laying hens.

Dirk-Jan De Koning, Nazaret Dominguez-Gasca, Robert H Fleming, Andrew Gill, Dominic Kurian, Andrew Law, Heather A McCormack, David Morrice, Estefania Sanchez-Rodriguez, Alejandro B Rodriguez-Navarro and 7 more

Open access · goldAbstract read
In one paragraph

Article in Genetics, selection, evolution : GSE, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
2.6field-weighted citation impact, top 10% 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

11 citing papers in PubMed, 23 citations in OpenAlex.

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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

17 authors at 5 institutions in 6 countries.

Dirk-Jan De KoningSwedish University of Agricultural Sciences, 75651, Uppsala, Sweden.
Nazaret Dominguez-GascaDepartamento de Mineralogía y Petrologia, Universidad de Granada, 18002, Granada, Spain.
Robert H FlemingThe Roslin Institute, University of Edinburgh, Edinburgh, EH25 9RG, Scotland, UK.
Andrew GillThe Roslin Institute, University of Edinburgh, Edinburgh, EH25 9RG, Scotland, UK.
Dominic KurianThe Roslin Institute, University of Edinburgh, Edinburgh, EH25 9RG, Scotland, UK.
Andrew LawThe Roslin Institute, University of Edinburgh, Edinburgh, EH25 9RG, Scotland, UK.
Heather A McCormackThe Roslin Institute, University of Edinburgh, Edinburgh, EH25 9RG, Scotland, UK.
David MorriceThe Roslin Institute, University of Edinburgh, Edinburgh, EH25 9RG, Scotland, UK.
Estefania Sanchez-RodriguezDepartamento de Mineralogía y Petrologia, Universidad de Granada, 18002, Granada, Spain.
Alejandro B Rodriguez-NavarroDepartamento de Mineralogía y Petrologia, Universidad de Granada, 18002, Granada, Spain.
Rudolf PreisingerLohmann Tierzucht, 7454, Cuxhaven, Germany.
Matthias SchmutzLohmann Tierzucht, 7454, Cuxhaven, Germany.
Veronica ŠmídováThe Roslin Institute, University of Edinburgh, Edinburgh, EH25 9RG, Scotland, UK.
Frances TurnerThe Roslin Institute, University of Edinburgh, Edinburgh, EH25 9RG, Scotland, UK.
Peter W WilsonThe Roslin Institute, University of Edinburgh, Edinburgh, EH25 9RG, Scotland, UK.
Rongyan ZhouThe Roslin Institute, University of Edinburgh, Edinburgh, EH25 9RG, Scotland, UK.
Ian C DunnThe Roslin Institute, University of Edinburgh, Edinburgh, EH25 9RG, Scotland, UK. ian.dunn@roslin.ed.ac.uk.ORCID http://orcid.org/0000-0003-3630-0120
Roslin Institute · GBUniversidad de Granada · ESLohmann Tierzucht (Germany) · DEHebei Agricultural University · CNSwedish University of Agricultural Sciences · SE

Funding

Biotechnology and Biological Sciences Research Council BB/J004316/1Biotechnology and Biological Sciences Research Council BB/M028291/1Biotechnology and Biological Sciences Research Council BBS/E/D/05191132Biotechnology and Biological Sciences Research Council BBS/E/D/20211550Biotechnology and Biological Sciences Research Council BBS/E/D/20211553Biotechnology and Biological Sciences Research Council BBS/E/D/20211554Biotechnology and Biological Sciences Research Council BBS/E/D/20320000Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria 291815Svenska Forskningsrådet Formas 2014-01840
6 · The paper itself

Abstract

backgroundSkeletal damage is a challenge for laying hens because the physiological adaptations required for egg laying make them susceptible to osteoporosis. Previously, we showed that genetic factors explain 40% of the variation in end of lay bone quality and we detected a quantitative trait locus (QTL) of large effect on chicken chromosome 1. The aim of this study was to combine data from the commercial founder White Leghorn population and the F2 mapping population to fine-map this QTL and understand its function in terms of gene expression and physiology.

resultsSeveral single nucleotide polymorphisms on chromosome 1 between 104 and 110 Mb (galGal6) had highly significant associations with tibial breaking strength. The alternative genotypes of markers of large effect that flanked the region had tibial breaking strengths of 200.4 vs. 218.1 Newton (P < 0.002) and, in a subsequent founder generation, the higher breaking strength genotype was again associated with higher breaking strength. In a subsequent generation, cortical bone density and volume were increased in individuals with the better bone genotype but with significantly reduced medullary bone quality. The effects on cortical bone density were confirmed in a further generation and was accompanied by increased mineral maturity of the cortical bone as measured by infrared spectrometry and there was evidence of better collagen cross-linking in the cortical bone. Comparing the transcriptome of the tibia from individuals with good or poor bone quality genotypes indicated four differentially-expressed genes at the locus, one gene, cystathionine beta synthase (CBS), having a nine-fold higher expression in the genotype for low bone quality. The mechanism was cis-acting and although there was an amino-acid difference in the CBS protein between the genotypes, there was no difference in the activity of the enzyme. Plasma homocysteine concentration, the substrate of CBS, was higher in the poor bone quality genotype.

conclusionsValidated markers that predict bone strength have been defined for selective breeding and a gene was identified that may suggest alternative ways to improve bone health in addition to genetic selection. The identification of how genetic variants affect different aspects of bone turnover shows potential for translational medicine.

Indexed as

Quantitative Trait LociAnimalsBone and BonesBone DensityChickensChromosomesFemaleGenotypeOsteoporosisOvipositionPolymorphism, Single NucleotidePoultry Diseases

Identifiers

PMID32093603
PMCPMC7038551
OpenAlexW2981805636

What OpenQuestion holds

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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.