Effect of ENPP1/PC-1-K121Q and PPARγ-Pro12Ala polymorphisms on the genetic susceptibility to T2D in the Tunisian population

Abstract Diabetes mellitus is the most common chronic metabolic disease. The raising diabetes epidemic is unfolding as an interaction between several environmental factors and a genetic predisposition. The aim of the current study was to evaluate the role of the PPARγ -Pro12Ala and ENPP1 -K121Q polymorphisms on type 2 diabetes (T2D) risk in a case–control study in the Tunisian population. To assess for any association of ENPP1 -K121Q and PPARγ -Pro12Ala polymorphisms with T2D risk, we analysed the genotypic and allelic distributions of each variant in the studied cohort. Our results support that the genetic variation at ENPP1 -K121Q predisposes to T2D in the Tunisian population after adjustment on gender, age and BMI status (OR = 1.55, 95%CI [1.11–2.16], p  = 0.007). Conversely, the PPARγ -Pro12Ala variant seems not to have a significant effect on T2D risk in our Tunisian cohort. However, the minor A-allele would convey protection against overweight in the Tunisian population. In fact, the over weighted subjects showed a significantly lower frequency of A-allele than lean controls (OR = 0.49, 95%CI [0.25–0.97], p  = 0.02). In conclusion, our findings support the hypothesis that ENPP1 -121Q is involved in the genetic susceptibility of T2D in the Tunisian population, while the PPARγ -12Ala allele may confer protection against overweight.