KCNJ11 as well as UCP2 genes are involved via modulation of ATP concentration in pancreatic beta-cells in control of insulin secretion. The aim of study was to compare genotypic distribution of E23K (KCNJ11) and G-866A (UCP2) polymorphisms between diabetics, their offspring and controls and to study the possible association of these polymorphisms with biochemical and anthropometric parameters.
The study entered 302 diabetics, 165 offspring, 241 controls. OGTT and ITT were performed in offspring and controls. The SNPs were detected by PCR-RFLP.
The frequencies of minor alleles in controls, diabetics and offspring: 23K: 37.1%, 38.4% and 43.6%; −866A: 40.3%, 37.3% and 41.2%.
DM2 high-/low-risk haplotypes were assessed in diabetics, offspring and controls. No significant differences in haplotype distribution were found. E23K polymorphism was associated with the insulinogenic index in non diabetic subjects: KK homozygotes had lower insulinogenic index in comparison with EE homozygotes (P=0.005). Stimulated glucose levels were higher in KK homozygotes in comparison with EE homozygotes (G30: P=0.004; G60: P=0.001; G90: P=0.024). G-866A polymorphism was not associated with DM2 markers and body composition.
The association of the KCNJ11 E23K and UCP2 G-866A with DM2 was not found. The association of KK genotype of KCNJ11 gene with beta-cell function was confirmed. This study was approved by Ethical Committee of the Institute of Endocrinology and supported by grants IGA NR/7809-5 and COST OC B17.10.
01 - 05 Apr 2006
European Society of Endocrinology