Evidence map›Paper›PMID 37354463›Full record

ArticleGigaScience2022

Identification of transcriptional regulatory variants in pig duodenum, liver, and muscle tissues.

Daniel Crespo-Piazuelo, Hervé Acloque, Olga González-Rodríguez, Mayrone Mongellaz, Marie-José Mercat, Marco C A M Bink, Abe E Huisman, Yuliaxis Ramayo-Caldas, Juan Pablo Sánchez, Maria Ballester

Open access · goldAbstract read
In one paragraph

Article in GigaScience, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
12.2field-weighted citation impact, top 1% 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

15 citing papers in PubMed, 39 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

10 authors at 5 institutions in 3 countries.

Daniel Crespo-PiazueloAnimal Breeding and Genetics Program, IRTA, Torre Marimon, Caldes de Montbui (08140), Spain.ORCID 0000-0001-7896-2507
Hervé AcloqueGABI, Université Paris-Saclay, INRAE, AgroParisTech, Jouy-en-Josas (78350), France.ORCID 0000-0003-4761-1055
Olga González-RodríguezAnimal Breeding and Genetics Program, IRTA, Torre Marimon, Caldes de Montbui (08140), Spain.
Mayrone MongellazGABI, Université Paris-Saclay, INRAE, AgroParisTech, Jouy-en-Josas (78350), France.
Marie-José MercatIFIP-Institut du porc and Alliance R&D, Le Rheu (35651), France.ORCID 0000-0002-3087-082X
Marco C A M BinkHendrix Genetics Research Technology & Services B.V., Boxmeer (5830 AC), The Netherlands.ORCID 0000-0002-1278-2092
Abe E HuismanHypor B.V., Boxmeer (5830 AC), The Netherlands.ORCID 0000-0001-6572-1157
Yuliaxis Ramayo-CaldasAnimal Breeding and Genetics Program, IRTA, Torre Marimon, Caldes de Montbui (08140), Spain.ORCID 0000-0002-8142-0159
Juan Pablo SánchezAnimal Breeding and Genetics Program, IRTA, Torre Marimon, Caldes de Montbui (08140), Spain.ORCID 0000-0001-8639-6146
Maria BallesterAnimal Breeding and Genetics Program, IRTA, Torre Marimon, Caldes de Montbui (08140), Spain.ORCID 0000-0002-5413-4640
Institute of Agrifood Research and Technology · ESAgroParisTech · FRAchmea (Netherlands) · NLHendrix Genetics (Netherlands) · NLInstitut du Porc · FR

Funding

AGAUR 2021-SGR-01552Horizon 2020 817998Ministry of Science, Innovation and Universities
6 · The paper itself

Abstract

backgroundIn humans and livestock species, genome-wide association studies (GWAS) have been applied to study the association between variants distributed across the genome and a phenotype of interest. To discover genetic polymorphisms affecting the duodenum, liver, and muscle transcriptomes of 300 pigs from 3 different breeds (Duroc, Landrace, and Large White), we performed expression GWAS between 25,315,878 polymorphisms and the expression of 13,891 genes in duodenum, 12,748 genes in liver, and 11,617 genes in muscle.

resultsMore than 9.68 × 1011 association tests were performed, yielding 14,096,080 significantly associated variants, which were grouped in 26,414 expression quantitative trait locus (eQTL) regions. Over 56% of the variants were within 1 Mb of their associated gene. In addition to the 100-kb region upstream of the transcription start site, we identified the importance of the 100-kb region downstream of the 3'UTR for gene regulation, as most of the cis-regulatory variants were located within these 2 regions. We also observed 39,874 hotspot regulatory polymorphisms associated with the expression of 10 or more genes that could modify the protein structure or the expression of a regulator gene. In addition, 2 motifs (5'-GATCCNGYGTTGCYG-3' and a poly(A) sequence) were enriched across the 3 tissues within the neighboring sequences of the most significant single-nucleotide polymorphisms in each cis-eQTL region.

conclusionsThe 14 million significant associations obtained in this study are publicly available and have enabled the identification of expression-associated cis-, trans-, and hotspot regulatory variants within and across tissues, thus shedding light on the molecular mechanisms of regulatory variations that shape end-trait phenotypes.

Indexed as

Gene Expression RegulationGenome-Wide Association StudyAnimalsHumansLiverMusclesPolymorphism, Single NucleotideSwineeQTLhotspotpigRNA-SeqWGS

Identifiers

PMID37354463
PMCPMC10290502
OpenAlexW4381848479

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.