Evidence map›Paper›PMID 34625056›Full record

ArticleBMC ophthalmology2021

Rare single nucleotide variants in COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482.

Liubov O Skorodumova, Alexandra V Belodedova, Elena I Sharova, Elena S Zakharova, Liliia N Iulmetova, Mukharram M Bikbov, Emin L Usubov, Olga P Antonova, Oksana V Selezneva, Anastasia Levchenko and 4 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC ophthalmology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.1field-weighted citation impact, top 50% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. Review
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

14 authors at 6 institutions in 1 country.

Liubov O SkorodumovaLaboratory of Human Molecular Genetics, Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, 1a Malaya Pirogovskaya Ul, Moscow, Russian Federation, 119435. lo.skorodumova@gmail.com.
Alexandra V BelodedovaLaboratory of Human Molecular Genetics, Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, 1a Malaya Pirogovskaya Ul, Moscow, Russian Federation, 119435.
Elena I SharovaLaboratory of Human Molecular Genetics, Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, 1a Malaya Pirogovskaya Ul, Moscow, Russian Federation, 119435.
Elena S ZakharovaLaboratory of Human Molecular Genetics, Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, 1a Malaya Pirogovskaya Ul, Moscow, Russian Federation, 119435.
Liliia N IulmetovaLaboratory of Human Molecular Genetics, Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, 1a Malaya Pirogovskaya Ul, Moscow, Russian Federation, 119435.
Mukharram M BikbovDepartment of Surgery of the Cornea and Lens, Ufa Eye Research Institute, Academy of Sciences of the Republic of Bashkortostan, 90 Pushkina Ul, Ufa, Russian Federation, 450008.
Emin L UsubovDepartment of Surgery of the Cornea and Lens, Ufa Eye Research Institute, Academy of Sciences of the Republic of Bashkortostan, 90 Pushkina Ul, Ufa, Russian Federation, 450008.
Olga P AntonovaDepartment of Anterior Segment Transplant and Optical Reconstructive Surgery, S. Fyodorov Eye Microsurgery Complex Federal State Institution, 59a Beskudnikovskiy Blv, Moscow, Russian Federation, 127486.
Oksana V SeleznevaLaboratory for Genomic Research and Computational Biology, Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, 1a Malaya Pirogovskaya Ul, Moscow, Russian Federation, 119435.
Anastasia LevchenkoTheodosius Dobzhansky Center for Genome Bioinformatics, Saint Petersburg State University, 7/9 Universitetskaya Nab, Saint Petersburg, 199034, Russia.
Olga Yu FedorenkoLaboratory of Molecular Genetics and Biochemistry, Mental Health Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences, 4 Aleutskaya Ul, Tomsk, 634014, Russia.
Svetlana A IvanovaLaboratory of Molecular Genetics and Biochemistry, Mental Health Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences, 4 Aleutskaya Ul, Tomsk, 634014, Russia.
Raul R GainetdinovLaboratory of Neuroscience and Molecular Pharmacology, Institute of Translational Biomedicine and Saint Petersburg State University Hospital, Saint Petersburg State University, 7/9 Universitetskaya Nab, Saint Petersburg, 199034, Russia.
Boris E MalyuginDepartment of Anterior Segment Transplant and Optical Reconstructive Surgery, S. Fyodorov Eye Microsurgery Complex Federal State Institution, 59a Beskudnikovskiy Blv, Moscow, Russian Federation, 127486.
Federal Medical-Biological Agency · RUIntersectoral Research and Technology Complex Eye Microsurgery · RUSt Petersburg University · RUUfa Eye Research Institute · RURussian Academy of Sciences · RUTomsk Polytechnic University · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundKeratoconus is a chronic degenerative disorder of the cornea characterized by thinning and cone-shaped protrusions. Although genetic factors play a key role in keratoconus development, the etiology is still under investigation. The occurrence of single-nucleotide polymorphisms (SNPs) associated with keratoconus in Russian patients is poorly studied. The purpose of this study was to validate whether three reported keratoconus-associated SNPs (rs1536482 near the COL5A1 gene, rs2721051 near the FOXO1 gene, rs1324183 near the MPDZ gene) are also actual for a Russian cohort of patients. Additionally, we investigated the COL5A1 promoter sequence for single-nucleotide variants (SNVs) in a subgroup of keratoconus patients with at least one rs1536482 minor allele (rs1536482+) to assess the role of these SNVs in keratoconus susceptibility associated with rs1536482.

methodsThis case-control study included 150 keratoconus patients and two control groups (main and additional, 205 and 474 participants, respectively). We performed PCR targeting regions flanking SNVs and the COL5A1 promoter, followed by Sanger sequencing of amplicons. The additional control group was genotyped using an SNP array.

resultsThe minor allele frequency was significantly different between the keratoconus and control cohorts (main and combined) for rs1536482, rs2721051, and rs1324183 (p-value < 0.05). The rare variants rs1043208782 and rs569248712 were found in the COL5A1 promoter in two out of 94 rs1536482+ keratoconus patients.

conclusionrs1536482, rs2721051, and rs1324183 were associated with keratoconus in a Russian cohort. SNVs in the COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482.

Indexed as

Collagen Type VKeratoconusCase-Control StudiesGenetic Predisposition to DiseaseHumansPolymorphism, Single NucleotidePromoter Regions, GeneticCOL5A1 protein, humanCollagen Type VCOL5A1CorneaFOXO1GenotypingGWASKeratoconusMPDZPromoterSNP

Identifiers

PMID34625056
PMCPMC8501560
OpenAlexW3201954337

What OpenQuestion holds

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LicenceCC BY
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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.