Frequency of HNF4A-P I463V variant in the tunisian North-African population and its relation with diabetes mellitus

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 proba-bly affected mutant protein. conclusion: hnf4a-p.i463v has a relatively high frequency (>1%) in our control cohort. it is also present in differ-ent ethnicities and in- silico analysis showed conflicting results. for these reasons,hnf4a-p.i463v should not be con-sidered as a mutation responsible for mody-1. © 2015 iran j public health all right reserved.