Resumo

GARCES, María Fátima et al. Apolipoprotein E gene polymorphisms and Pro12Ala polymorfphism of PPARγ-2 gene in children with risk factors to cardiometabolic disease. Arch Venez Puer Ped [online]. 2012, vol.75, n.3, pp.75-83. ISSN 0004-0649.

Introduction: Insulin resistance (IR) is very frequent in children and adolescents obeses, which could contribute significantly in the development of cardiometabolic diseases, this could be associated to a combination of genetics factors and life’s style. Aim: To evaluate the relationship between ApoE gene polymorphisms and PPARγ2 gene Pro12Ala polymorphisms with risk factors to cardiometabolic disease in children. Population and Materials: 141 children (CANIA and Hospital “JM de los Ríos”), 46 with obesity, 33 with hypercholesterolemia, 30 with IR and 32 normal subjects. Total cholesterol and fractions, glucose, insulin and triglycerides were measured; also it was determinated the polymorphism genes on each patient. Results: The distribution of the frequency of the allele E4 of the ApoE gene were: 10, 9% obese, 7,6% hypercholesterolemia, 18,3% IR and 4,6% on normal subjects. The frequency of Pro12Ala polymorphism were up to 6,4% on the total subjects in the study. In the obese and hypercholesterolemic groups we found an increase of the total cholesterol, LDL-c and triglycerides, associated with the presence of allele ε4. In children with IR we got a significant difference of the presence of allele ε4 compared with the control group, which means that this allele could be related with the development of the disease. It was not found a relation between the Pro12Ala of PPARγ2 gene and the development of obesity, hypercholesterolemia and insulin resistance in children. Conclusions: The presence of several polymorphisms in a same individual could be associated with risk factors to cardiometabolic disease.

Palavras-chave : Obesity; hypercholesterolemia; insulin resistance; Apolipoprotein E; PPAR2; cardiometabolic risk factors.

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