Endocrine Abstracts

JOINT1618

Leptin is a protein about 16 kDa size playing a key role in energy intake and expenditure. It is a member of the cytokine family including intraleukin 2 and intraleukin 4 and is one of the most important hormones produced by adipocytes. The gene’s function was initially linked to a signaling pathway suppressing food intake. The relationship between genetic variants in the leptin gene and the risk of developing diabetes has not been extensively analyzed. The -2548 G/A polymorphism in the promoter region of the leptin gene shows a genotype-specific association with an increased risk of developing diabetes.

Study Aim: Investigation of allelic and genotypic frequencies of the 2548 G/A polymorphism in the leptin gene in the observed groups.

Methods and materials: A total of 302 individuals were included in the present study, of which 202 patients were divided into five groups according to diabetic type-Diabetes type 1;Diabetes type 2 DT2; Type 2 diabetes with secondary depletion ;Diabetes type MODY; Diabetes type LADA and healthy control group.

Results: Leptin is involved not only in the regulation of food intake and energy balance, but also as a hormone related to glucose metabolism, body mass regulation and functions as an endocrine mediator. In general, in the studied groups, no relationship was found with the studied polymorphism in leptin genes and predisposition to the development of certain diabetic pathology. A certain tendency, which confirms the literature data, was observed only in patients with type 2 diabetes. The population frequency of the 2548 G/A polymorphism in the leptin gene shows great variability. From the present study, it can be seen that the frequency determined for the studied sample from the Bulgarian population is comparable to that of other European populations. When comparing the distribution of genotype G/G (+/+) to the other genotypes, an interesting finding is the higher frequency of genotype G/G (+/+) in patients with type 1 diabetes compared to the control sample (P = 0.0645). According to literature data as well as preliminary studies for the Bulgarian population, genotype A/A (-/-) has a relationship to diabetic pathology, which contradicts the data from the present study. It should be noted that predisposition to the disease associated with genotype A/A (-/-) was found mainly in patients with gestational and type 2 diabetes.