The UCP1 gene polymorphism A-3826G in relation to DM2 and body composition in Czech population

Mitochondrial uncoupling contributes to the control of energy expenditure. The brown fat specific uncoupling protein 1 (UCP1) mRNA was detected in intraperitoneal and extraperitoneal adipose tissue in adult humans. The A-3826G polymorphism in the UCP1 gene promoter region was found to be associated with reduced mRNA expression indicating that the polymorphism is of functional importance. Objective: To determine allelic frequencies and genotypic distribution of the A-3826G polymorphism and to study its possible association with anthropometric parameters and biochemical markers of glucose and lipid metabolism in type 2 diabetes mellitus (DM2) patients (n = 295), in offspring of DM2 patients (n=113), and in healthy adults without family history of DM2 (n = 120). Results and Discussion: In the whole cohort of 528 subjects, the G allele was observed with a frequency of 0.26. Genotypic distribution did not differ between diabetics and controls. However, in the offspring of DM2 patients, significantly higher BMI and a trend towards higher waist to hip ratio, waist to height ratio, waist circumference, and subcutaneous fat mass was observed in the AG genotype compared with the wildtype. Similar tendency was evident in the control group. This indicates possible involvement of the A-3826G polymorphism in the regulation of body composition.