Evidence map›Paper›PMID 30728419›Full record

ArticleScientific reports2019

Blood-based analysis of type-2 diabetes mellitus susceptibility genes identifies specific transcript variants with deregulated expression and association with disease risk.

Maria-Ioanna Christodoulou, Margaritis Avgeris, Ioanna Kokkinopoulou, Eirini Maratou, Panayota Mitrou, Christos K Kontos, Efthimios Pappas, Eleni Boutati, Andreas Scorilas, Emmanuel G Fragoulis

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
1.5field-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

14 citing papers in PubMed, 26 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

10 authors at 2 institutions in 2 countries.

Maria-Ioanna ChristodoulouDepartment of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, Athens, Greece. mchrist@biol.uoa.gr.
Margaritis AvgerisDepartment of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, Athens, Greece.ORCID 0000-0002-2135-9886
Ioanna KokkinopoulouDepartment of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, Athens, Greece.
Eirini MaratouHellenic National Center for Research, Prevention and Treatment of Diabetes Mellitus and its Complications (HNDC), Athens, Greece.
Panayota MitrouHellenic National Center for Research, Prevention and Treatment of Diabetes Mellitus and its Complications (HNDC), Athens, Greece.
Christos K KontosDepartment of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, Athens, Greece.ORCID 0000-0002-9935-8461
Efthimios PappasHellenic National Center for Research, Prevention and Treatment of Diabetes Mellitus and its Complications (HNDC), Athens, Greece.
Eleni BoutatiSecond Department of Internal Medicine, School of Medicine, Attikon Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Andreas ScorilasDepartment of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, Athens, Greece.ORCID 0000-0003-2427-4949
Emmanuel G FragoulisDepartment of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, Athens, Greece.
National and Kapodistrian University of Athens · GRHellenic Center for Disease Control & Prevention · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Despite significant progress by genome-wide association studies, the ability of genetic variants to conduce to the prediction or prognosis of type-2 diabetes (T2D) is weak. Expression analysis of the corresponding genes may suggest possible links between single-nucleotide polymorphisms and T2D phenotype and/or risk. Herein, we investigated the expression patterns of 24 T2D-susceptibility genes, and their individual transcript variants (tv), in peripheral blood of T2D patients and controls (CTs), applying RNA-seq and real-time qPCR methodologies, and explore possible associations with disease features. Our data revealed the deregulation of certain transcripts in T2D patients. Among them, the down-regulation of CAPN10 tv3 was confirmed as an independent predictor for T2D. In patients, increased expression of CDK5 tv2, CDKN2A tv3 or THADA tv5 correlated positively with serum insulin levels, of CDK5 tv1 positively with % HbA1c levels, while in controls, elevated levels of TSPAN8 were associated positively with the presence of T2D family history. Herein, a T2D-specific expression profile of specific transcripts of disease-susceptibility genes is for the first time described in human peripheral blood. Large-scale studies are needed to evaluate the potential of these molecules to serve as disease biomarkers.

Indexed as

Genetic Predisposition to DiseasePolymorphism, Single NucleotideAdultAgedBiomarkersCase-Control StudiesDiabetes Mellitus, Type 2FemaleFollow-Up StudiesGene Expression RegulationGenotypeHigh-Throughput Nucleotide SequencingHumansLeukocytes, MononuclearMaleMiddle AgedBiomarkers

Identifiers

PMID30728419
PMCPMC6365563
OpenAlexW2914830775

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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.