Evidence map›Paper›PMID 32860162›Full record

ArticleMolecular biology reports2020

Analysis of the promoter regions of disease-causing genes in maturity-onset diabetes of the young patients.

Jovana Komazec, Bojan Ristivojevic, Branka Zukic, Vera Zdravkovic, Teodora Karan-Djurasevic, Sonja Pavlovic, Milena Ugrin

Abstract read
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In one paragraph

Article in Molecular biology reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 36% 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. 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

7 authors at 1 institution in 2 countries.

Jovana KomazecInstitute of Molecular Genetics and Genetic Engineering, Laboratory for Molecular Biomedicine, University of Belgrade, Belgrade, Serbia.
Bojan RistivojevicInstitute of Molecular Genetics and Genetic Engineering, Laboratory for Molecular Biomedicine, University of Belgrade, Belgrade, Serbia.
Branka ZukicInstitute of Molecular Genetics and Genetic Engineering, Laboratory for Molecular Biomedicine, University of Belgrade, Belgrade, Serbia.
Vera ZdravkovicUniversity Children's Hospital, University of Belgrade, Belgrade, Serbia.
Teodora Karan-DjurasevicInstitute of Molecular Genetics and Genetic Engineering, Laboratory for Molecular Biomedicine, University of Belgrade, Belgrade, Serbia.
Sonja PavlovicInstitute of Molecular Genetics and Genetic Engineering, Laboratory for Molecular Biomedicine, University of Belgrade, Belgrade, Serbia.
Milena UgrinInstitute of Molecular Genetics and Genetic Engineering, Laboratory for Molecular Biomedicine, University of Belgrade, Belgrade, Serbia. milena.ugrin@imgge.bg.ac.rs.ORCID http://orcid.org/0000-0002-7464-9406
University of Belgrade · RS

Funding

Ministry of Education, Science and Technological Development, Republic of Serbia EB:451-03-68/2020-14/200042
6 · The paper itself

Abstract

Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes caused by the variants in MODY-related genes. In addition to coding variants, variants in the promoter region of MODY-related genes can cause the disease as well. In this study, we screened the promoter regions of the most common MODY-related genes GCK, HNF1A, HNF4A and HNF1B in our cohort of 29 MODY patients. We identified one genetic variant in the HNF1A gene, a 7 bp insertion c.-154-160insTGGGGGT, and three variants in the GCK gene, -282C>T; -194A>G; 402C>G appearing as set. Chloramphenicol acetyltransferase (CAT) assay was performed to test the effect of the 7 bp insertion and the variant set on the activity of the reporter gene in HepG2 and RIN-5F cell, respectively, where a decreasing trend was observed for both variants. In silico analysis and electrophoretic mobility shift assay showed that the 7 bp insertion did not create the binding site for new transcriptional factors, but gave rise to additional binding sites for the existing ones. Results from our study indicated that the 7 bp insertion in the HNF1A gene could be associated with the patient's diabetes. As for the GCK variant set, it is probably not associated with diabetes in patients, but it may modify the fasting glucose level by causing small elevation in variant set carriers. We have presented two promoter variants in MODY-related genes. Variant in the HNF1A gene is presumed to be disease-causing and the GCK promoter variant set could be a phenotype modifier.

Indexed as

Cohort StudiesDiabetes Mellitus, Type 2Genetic Association StudiesGenotypeGerminal Center KinasesHepatocyte Nuclear Factor 1-alphaHep G2 CellsHeterozygoteHumansMutationPhenotypePolymorphism, Single NucleotidePromoter Regions, GeneticGerminal Center KinasesHepatocyte Nuclear Factor 1-alphaHNF1A protein, humanMAP4K2 protein, humanFunctional analysisGCK geneHNF1A geneMaturity-onset diabetes of the young (MODY)Promoter variants

Identifiers

PMID32860162
OpenAlexW3082663530

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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.