Evidence map›Paper›PMID 29606121›Full record

ArticleBMC research notes2018

Polymorphism of the GLIS3 gene in a Caucasian population and among individuals with carbohydrate metabolism disorders in Russia.

E V Shakhtshneider, S V Mikhailova, D E Ivanoshchuk, P S Orlov, A K Ovsyannikova, O D Rymar, Yu I Ragino, M I Voevoda

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

Article in BMC research notes, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.8field-weighted citation impact, top 25% 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

5 citing papers in PubMed, 8 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

8 authors at 2 institutions in 1 country.

E V ShakhtshneiderResearch Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Bogatkova Str. 175/1, Novosibirsk, 630004, Russia. 2117409@mail.ru.
S V MikhailovaFederal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Prospekt Lavrentyeva 10, Novosibirsk, 630090, Russia.
D E IvanoshchukResearch Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Bogatkova Str. 175/1, Novosibirsk, 630004, Russia.
P S OrlovResearch Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Bogatkova Str. 175/1, Novosibirsk, 630004, Russia.
A K OvsyannikovaResearch Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Bogatkova Str. 175/1, Novosibirsk, 630004, Russia.
O D RymarResearch Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Bogatkova Str. 175/1, Novosibirsk, 630004, Russia.
Yu I RaginoResearch Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Bogatkova Str. 175/1, Novosibirsk, 630004, Russia.
M I VoevodaResearch Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Bogatkova Str. 175/1, Novosibirsk, 630004, Russia.
Institute of Cytology and Genetics · RUNovosibirsk State University · RU

Funding

Russian Science Foundation 14-15-00496-P
6 · The paper itself

Abstract

objectiveEarlier, GLIS3 gene polymorphisms have been shown to be associated with the development of maturity onset diabetes of the young (MODY). We screened GLIS3 gene sequences among patients with MODY to identify probably pathogenic variants by whole-exome sequencing. We estimated frequency of rare single-nucleotide variants in the coding region of GLIS3 in a Caucasian population and among individuals with carbohydrate metabolism disorders in Russia.

resultsWe identified 15 single-nucleotide variants in GLIS3. Three rare variants (minor allele frequency < 1%) rs806052, rs143051164, and rs149840771 were genotyped in 126 cases of MODY, in 188 patients with type 2 diabetes mellitus (DM2), and 564 randomly selected Caucasian individuals in Russia. A heterozygous rs806052 variant was identified in one patient with DM2; c.1270T frequency was 0.003. Prevalence of rs143051164 c.844G was 0.003 in the control population and 0.004 and 0.003 in MODY and DM2 samples, respectively. Prevalence of rs149840771 c.2096A was 0.003 and 0.004 in the control population and among MODY patients, respectively. In DM2 patients, rs149840771 c.2096A was not identified. We did not detect any associations of rs806052, rs143051164, and rs149840771 with carbohydrate metabolism disorders among patients with MODY and DM2 in Russia.

Indexed as

Carbohydrate MetabolismPolymorphism, Single NucleotideAgedDiabetes Mellitus, Type 2DNA-Binding ProteinsFemaleGene FrequencyGenetic Predisposition to DiseaseGenotypeHumansMaleMiddle AgedRepressor ProteinsRussiaTrans-ActivatorsTranscription FactorsDNA-Binding ProteinsGLIS3 protein, humanRepressor ProteinsTrans-ActivatorsTranscription FactorsGLIS3Maturity onset diabetes of the youngMODYPopulationrs143051164rs149840771rs806052Single-nucleotide polymorphismType 2 diabetes mellitus

Identifiers

PMID29606121
PMCPMC5880065
OpenAlexW2804673983

What OpenQuestion holds

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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 OpenQuestion graph.