Evidence map›Paper›PMID 33433680›Full record

ArticleHuman genetics2021

Alternative splicing in normal and pathological human placentas is correlated to genetic variants.

Camino S M Ruano, Clara Apicella, Sébastien Jacques, Géraldine Gascoin, Cassandra Gaspar, Francisco Miralles, Céline Méhats, Daniel Vaiman

Open access · hybridAbstract read
In one paragraph

Article in Human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 1 pooled it
2.0field-weighted citation impact, top 13% 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

14 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.

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  9. hnRNPL expression dynamics in the embryo and placenta.Gene expression patterns : GEP · 2023
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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

8 authors at 2 institutions in 1 country.

Camino S M Ruano *Université de Paris, Institut Cochin, Inserm U1016, CNRS, 24 rue du Faubourg St Jacques, 75014, Paris, France.
Clara Apicella *Université de Paris, Institut Cochin, Inserm U1016, CNRS, 24 rue du Faubourg St Jacques, 75014, Paris, France.
Sébastien JacquesUniversité de Paris, Institut Cochin, Inserm U1016, CNRS, 24 rue du Faubourg St Jacques, 75014, Paris, France.
Géraldine GascoinUnité Mixte de Recherche MITOVASC, Équipe Mitolab, CNRS 6015, INSERM U1083, Université d'Angers, Angers, France.
Cassandra GasparSorbonne Université, Inserm, UMS Production et Analyse des Données en Sciences de la vie et en Santé, PASS, Plateforme Post-génomique de la Pitié-Salpêtrière, P3S, 75013, Paris, France.
Francisco MirallesUniversité de Paris, Institut Cochin, Inserm U1016, CNRS, 24 rue du Faubourg St Jacques, 75014, Paris, France.
Céline Méhats *Université de Paris, Institut Cochin, Inserm U1016, CNRS, 24 rue du Faubourg St Jacques, 75014, Paris, France.
Daniel Vaiman *Université de Paris, Institut Cochin, Inserm U1016, CNRS, 24 rue du Faubourg St Jacques, 75014, Paris, France. daniel.vaiman@inserm.fr.ORCID http://orcid.org/0000-0002-1915-0717
Centre National de la Recherche Scientifique · FRInserm · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Two major obstetric diseases, preeclampsia (PE), a pregnancy-induced endothelial dysfunction leading to hypertension and proteinuria, and intra-uterine growth-restriction (IUGR), a failure of the fetus to acquire its normal growth, are generally triggered by placental dysfunction. Many studies have evaluated gene expression deregulations in these diseases, but none has tackled systematically the role of alternative splicing. In the present study, we show that alternative splicing is an essential feature of placental diseases, affecting 1060 and 1409 genes in PE vs controls and IUGR vs controls, respectively, many of those involved in placental function. While in IUGR placentas, alternative splicing affects genes specifically related to pregnancy, in preeclamptic placentas, it impacts a mix of genes related to pregnancy and brain diseases. Also, alternative splicing variations can be detected at the individual level as sharp splicing differences between different placentas. We correlate these variations with genetic variants to define splicing Quantitative Trait Loci (sQTL) in the subset of the 48 genes the most strongly alternatively spliced in placental diseases. We show that alternative splicing is at least partly piloted by genetic variants located either in cis (52 QTL identified) or in trans (52 QTL identified). In particular, we found four chromosomal regions that impact the splicing of genes in the placenta. The present work provides a new vision of placental gene expression regulation that warrants further studies.

Indexed as

Alternative SplicingFemaleFetal Growth RetardationHumansPlacentaPre-EclampsiaPregnancyPregnancy ComplicationsQuantitative Trait Loci

Identifiers

PMID33433680
PMCPMC8052246
OpenAlexW3120343359

What Socratic holds

Textmetadata
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 Socratic graph.