Bouhaha R, Meyre D, Kamoun H Abid, Ennafaa H, Vaillant E, Sassi R, Baroudi T, Vatin V, Froguel P, Elgaaied A, Vaxillaire M
Faculty of Sciences of Tunis, Laboratory of Genetics, Immunology and Human Pathologies, 2092 Tunis, Tunisia.
Diabetes Res Clin Pract. 2008 Sep;81(3):278-83. doi: 10.1016/j.diabres.2008.06.004. Epub 2008 Jul 25.
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.
糖尿病是最常见的慢性代谢性疾病。糖尿病流行趋势的加剧是多种环境因素与遗传易感性相互作用的结果。本研究的目的是在突尼斯人群的一项病例对照研究中，评估PPARγ - Pro12Ala和ENPP1 - K121Q基因多态性对2型糖尿病（T2D）风险的作用。为了评估ENPP1 - K121Q和PPARγ - Pro12Ala基因多态性与T2D风险的任何关联，我们分析了研究队列中每个变异的基因型和等位基因分布。我们的结果支持，在对性别、年龄和BMI状态进行校正后，突尼斯人群中ENPP1 - K121Q的基因变异易患T2D（OR = 1.55，95%CI [1.11 - 2.16]，p = 0.007）。相反，在我们的突尼斯队列中，PPARγ - Pro12Ala变异似乎对T2D风险没有显著影响。然而，次要的A等位基因在突尼斯人群中对超重具有保护作用。事实上，超重受试者的A等位基因频率显著低于瘦对照（OR = 0.49，95%CI [0.25 - 0.97]，p = 0.02）。总之，我们的研究结果支持以下假设：ENPP1 - 121Q参与突尼斯人群T2D的遗传易感性，而PPARγ - 12Ala等位基因可能对超重具有保护作用。
