title: Effect of ENPP1/PC-1-K121Q and PPARgamma-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 PPARgamma-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 PPARgamma-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 PPARgamma-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 PPARgamma-12Ala allele may confer protection against overweight.
authors.affiliation: Faculty of Sciences of Tunis, Laboratory of Genetics, Immunology and Human Pathologies, 2092 Tunis, Tunisia. rymab12@yahoo.fr
authors.forename: R
authors.initials: R
authors.lastname: Bouhaha
authors.forename: D
authors.initials: D
authors.lastname: Meyre
authors.forename: H Abid
authors.initials: HA
authors.lastname: Kamoun
authors.forename: H
authors.initials: H
authors.lastname: Ennafaa
authors.forename: E
authors.initials: E
authors.lastname: Vaillant
authors.forename: R
authors.initials: R
authors.lastname: Sassi
authors.forename: T
authors.initials: T
authors.lastname: Baroudi
authors.forename: V
authors.initials: V
authors.lastname: Vatin
authors.forename: P
authors.initials: P
authors.lastname: Froguel
authors.forename: A
authors.initials: A
authors.lastname: Elgaaied
authors.forename: M
authors.initials: M
authors.lastname: Vaxillaire
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D015992:Body Mass Index; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D047495:PPAR gamma / Q000235:genetics*; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011755:Pyrophosphatases / Q000235:genetics*; D012016:Reference Values; D014416:Tunisia
chemical_list: D047495:PPAR gamma; D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases