The UCP1 Gene Polymorphism A-3826G in Relation to DM2 and Body Composition in Czech Population

Abstract

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 wild-type. Similar tendency was evident in the control group. This indicates possible involvement of the A-3826G polymorphism in the regulation of body composition.

Key words

type 2 diabetes mellitus - uncoupling protein 1 - A-3826G polymorphism - insulin sensitivity - obesity in humans

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