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Abstract
Estrogen might play an important role in type 2 diabetes mellitus pathogenesis. A number of polymorphisms have been reported in the estrogen receptor alpha gene including the PvuII and XbaI restriction enzyme polymorphisms. The aim of this study was to determine if ESR1gene polymorphisms are associated with type 2 diabetes mellitus and correlated with lipid profile.Ninety diabetic Egyptian patients were compared with forty healthy controls. ESR1genotyping of PvuII and XbaI was performed using restriction fragment length polymorphism analysis. Our study showed that there is more significant difference in the frequency of C and G polymorphic allele between patients and control groups in PvuII and XbaI respectively. Also carriers of minor C and G alleles of PvuII and XbaI gene polymorphisms were associated with increased fasting blood glucose and disturbance in lipid profile as there is an increase in total cholesterol, triglycerides and Low density lipoprotein. So our study suggests the possibility that PvuII and XbaI polymorphisms in ESR1 are related to T2DM and with increased serum lipids among Egyptian population