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Iran J Public Health. 2015 Mar;44(3):396-403.

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

Author information

1
Unit 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.
2
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.
3
Regional Center of Blood Transfusion of Sousse, Sousse, Tunisia.
4
Dept. of Endocrinology and Diabetology, Farhat Hached University Hospital, Sousse, Tunisia.
5
Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
6
Unit of Molecular Endocrinology, Sousse Faculty of Medicine, University of Sousse, Sousse, Tunisia ; Dept. of Endocrinology and Diabetology, Farhat Hached University Hospital, Sousse, Tunisia.

Abstract

BACKGROUND:

HNF4A-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%).

METHODS:

200 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.

RESULTS:

HNF4A-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.

CONCLUSION:

HNF4A-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.

KEYWORDS:

HNF4A-p.I463V; MODY; Mutation; Polymorphism; Tunisia; Type 2 diabetes; in-silico; rs147638455

PMID:
25905084
PMCID:
PMC4402419

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