Evidence map›Paper›PMID 25905084›Full record

ArticleIranian journal of public health2015

Frequency of HNF4A-P.I463V Variant in the Tunisian North-African Population and Its Relation with Diabetes Mellitus.

Abdelbasset Amara, Ilhem Ben Charfeddine, Houda Ghédir, Ons Mamaï, Saloua Jemni-Yacoub, Larbi Chaieb, Ali Saad, Molka Chadli-Chaieb, Moez Gribaa

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In one paragraph

Article in Iranian journal of public health, 2015. 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
0.5field-weighted citation impact, top 26% 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, 2 citations in OpenAlex.

  1. Article
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

9 authors at 1 institution in 1 country.

Abdelbasset AmaraUnit of Molecular Endocrinology, Sousse Faculty of Medicine, University of Sousse, Sousse, Tunisia ; Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia ; Higher Institute of Biotechnology of Monastir, University of Monastir, Tunisia.
Ilhem Ben CharfeddineLaboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia ; Higher Institute of Biotechnology of Monastir, University of Monastir, Tunisia.
Houda GhédirLaboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia ; Higher Institute of Biotechnology of Monastir, University of Monastir, Tunisia.
Ons MamaïLaboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia ; Higher Institute of Biotechnology of Monastir, University of Monastir, Tunisia.
Saloua Jemni-YacoubRegional Center of Blood Transfusion of Sousse, Sousse, Tunisia.
Larbi ChaiebDept. of Endocrinology and Diabetology, Farhat Hached University Hospital, Sousse, Tunisia.
Ali SaadLaboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
Molka Chadli-ChaiebUnit of Molecular Endocrinology, Sousse Faculty of Medicine, University of Sousse, Sousse, Tunisia ; Dept. of Endocrinology and Diabetology, Farhat Hached University Hospital, Sousse, Tunisia.
Moez GribaaLaboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
Hôpital Farhat Hached · TN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHNF4A-p.I463Vvariant, reported previously in two distinct families suspected of MODY-1, is assessed in this report to determine whether it is a mutation or a polymorphism (frequency >1%).

methods200 Tunisian healthy people were screened for the presence of HNF4A-p.I463V variant, using RFLP-PCR technique and sequencing. Then, the frequency of this variant was estimated in the Tunisian population and compared to other populations registered in genetic databases. We also performed in-silico analysis using PolyPhen2 and Mutation T@sting softwares to assess the probable effect of HNF4A-p.I463V variant.

resultsHNF4A-p.I463V had a rare frequency in different populations and was found in 3 control subjects (1.5%) of the studied population. PolyPhen2 predicted that it is a polymorphism, whereas mutation T@sting suggested a probably affected mutant protein.

conclusionHNF4A-p.I463V has a relatively high frequency (>1%) in our control cohort. It is also present in different ethnicities and in- silico analysis showed conflicting results. For these reasons, HNF4A-p.I463V should not be considered as a mutation responsible for MODY-1.

Indexed as

HNF4A-p.I463Vin-silicoMODYMutationPolymorphismrs147638455TunisiaType 2 diabetes

Identifiers

PMID25905084
PMCPMC4402419
OpenAlexW2132686357

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.