Frequency of HNF4A-P.I463V Variant in the Tunisian North-Afri¬can Population and Its Relation with Diabetes Mellitus
Author(s):
Abdelbasset Amara , Ilhem Ben Charfeddine , Houda Gh , Eacute , Dir , Ons Mama , Iuml , Saloua Jemni , Yacoub , Larbi Chaieb , Ali Saad , Molka Chadli , Chaieb , Moez Gribaa
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.Language:
English
Published:
Iranian Journal of Public Health, Volume:44 Issue: 3, Mar 2015
Pages:
396 to 403
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