Interaction of the PPARG2 – P12A and PC1 – K121Q gene polymorphisms in the development of the metabolic syndrome

Written by Csép Katalin, Dudutz Gyöngyi, Paşcanu Ionela, Bănescu Claudia

The PPARG2 gene influences the lipid and carbohydrate metabolism via multiple pathways and the P12A polymorphism was frequently reported to be associated with metabolic anomalies. The PC1 interacts directly with the insulin receptor, and the K121Q polymorphism of the gene may induce insulin resistance. We investigated the interaction between the two snips in the local population as suggested by Baratta et al. in Italians. We found significant difference in the case of the PP+KQ/QQ vs. PP+KK genotype combination in the case of fasting glucose, insulin resistance, body weight and waist circumference, blood lipids and blood pressure (p<0,05), but not in the case of the PA/AA+KQ/QQ vs. PA/ AA+KK groups. The risk for developing the metabolic syndrome in the case of the PP+KQ/QQ as compared to the rest of genotype combinations was significantly increased (OR: 9,25, p<0,001). These results confirm the epistatic effect between the two snips and suggest complex gene interactions involved in the development of the metabolic syndrome.


Keywords: metabolic syndrome, PPARG2, PC1, epistasis

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