Evidence map›Paper›PMID 34554362›Full record

ArticleJournal of assisted reproduction and genetics2021

NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss.

Elena A Sazhenova, Tatyana V Nikitina, Stanislav A Vasilyev, Ekaterina N Tolmacheva, Oksana Yu Vasilyeva, Anton V Markov, Sergey Yu Yuryev, Nikolay A Skryabin, Alexey A Zarubin, Nikita A Kolesnikov and 2 more

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In one paragraph

Article in Journal of assisted reproduction and genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.4field-weighted citation impact, top 17% 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

6 citing papers in PubMed, 11 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

12 authors at 2 institutions in 1 country.

Elena A SazhenovaResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Ushaika str., 10, Tomsk, Russia. elena.sazhenova@medgenetics.ru.ORCID http://orcid.org/0000-0003-3875-3932
Tatyana V NikitinaResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Ushaika str., 10, Tomsk, Russia.ORCID http://orcid.org/0000-0002-4230-6855
Stanislav A VasilyevResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Ushaika str., 10, Tomsk, Russia.ORCID http://orcid.org/0000-0002-5301-070X
Ekaterina N TolmachevaResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Ushaika str., 10, Tomsk, Russia.ORCID http://orcid.org/0000-0002-0716-4302
Oksana Yu VasilyevaResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Ushaika str., 10, Tomsk, Russia.ORCID http://orcid.org/0000-0001-5797-0014
Anton V MarkovResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Ushaika str., 10, Tomsk, Russia.ORCID http://orcid.org/0000-0002-5824-6439
Sergey Yu YuryevSiberian State Medical University, Tomsk, Russia.
Nikolay A SkryabinResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Ushaika str., 10, Tomsk, Russia.ORCID http://orcid.org/0000-0002-2491-3141
Alexey A ZarubinResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Ushaika str., 10, Tomsk, Russia.ORCID http://orcid.org/0000-0001-6568-6339
Nikita A KolesnikovResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Ushaika str., 10, Tomsk, Russia.ORCID http://orcid.org/0000-0001-8855-577X
Vadim A StepanovResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Ushaika str., 10, Tomsk, Russia.ORCID http://orcid.org/0000-0002-5166-331X
Igor N LebedevResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Ushaika str., 10, Tomsk, Russia.ORCID http://orcid.org/0000-0002-0482-8046
Russian Academy of Sciences · RUSiberian State Medical University · RU

Funding

Ministry of Science and Education of the Russian Federation AAAA-A19-11902089005-5
6 · The paper itself

Abstract

purposeComparative analysis of multilocus imprinting disturbances (MLIDs) in miscarriages from women with sporadic (SPL) and recurrent pregnancy loss (RPL) and identification of variants in the imprinting control gene NLRP7 that may lead to MLIDs.

methodsChorionic cytotrophoblast and extraembryonic mesoderm samples from first-trimester miscarriages were evaluated in 120 women with RPL and 134 women with SPL; 100 induced abortions were analyzed as a control group. All miscarriages had a normal karyotype. Epimutations in 7 imprinted genes were detected using methyl-specific PCR and confirmed with DNA pyrosequencing. Sequencing of all 13 exons and adjusted intron regions of the NLRP7 gene was performed.

resultsEpimutations in imprinted genes were more frequently detected (p < 0.01) in the placental tissues of miscarriages from women with RPL (7.1%) than in those of women with SPL (2.7%). The predominant epimutation was postzygotic hypomethylation of maternal alleles of imprinted genes (RPL, 5.0%; SPL, 2.1%; p < 0.01). The frequency of MLID was higher among miscarriages from women with RPL than among miscarriages from women with SPL (1.7% and 0.4%, respectively, p < 0.01). Variants in NLRP7 were detected only in miscarriages from women with RPL. An analysis of the parental origin of NLRP7 variants revealed heterozygous carriers in families with RPL who exhibited spontaneous abortions with MLIDs and compound heterozygosity for NLRP7 variants.

conclusionRPL is associated with NLRP7 variants that lead to germinal and postzygotic MLIDs that are incompatible with normal embryo development.

trial registrationNot applicable.

Indexed as

DNA MethylationGenomic ImprintingHeterozygoteMutationAbortion, HabitualAdaptor Proteins, Signal TransducingAdultFemaleHumansPregnancyAdaptor Proteins, Signal TransducingNLRP7 protein, humanDNA methylationMultilocus imprinting disturbances (MLID)NLRP7PlacentaRecurrent pregnancy lossTrophoblast

Identifiers

PMID34554362
PMCPMC8608992
OpenAlexW3200523035

What OpenQuestion holds

Textmetadata
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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.