Background and Aims

Nowadays a huge number of genetic polymorphisms, associated with insulin resistance have been identified. However, their prevalence may have regional differences. Our aim was to study the possible association of the FTO rs9939609, PPARG rs180128, PPARGC1A rs8192678 polymorphisms with the development of type 2 diabetes mellitus (T2DM) and early carbohydrate metabolism disorders in the residents of the Republic of Tatarstan.

Methods

The study included 272 obese patients: a group of patients with T2DM and a group with prediabetes. The control group was taken from the 1000 genomes database (European population, n=503). DNA was isolated from leukocytes, followed by the determination of alleles and genotypes using real-time PCR.

Results

Bearing of the AA genotype and A allele of the FTO gene polymorphism increases the risk of both T2DM (OR=1,73, p=0,0006; OR=1,73, p<0,05, respectively) and prediabetes (OR=2,93, p<0,05; OR=2,51, p<0,05, respectively) development. Bearing of the G allele and GG genotype of the PPARG gene polymorphism significantly increases the risk of T2DM (OR=1,63, p=0,009; OR=7,29, p=0,0002, respectively), but no association with prediabetes was identified. PPARGC1A gene polymorphism showed a significant effect of the C allele and CC genotype both in T2DM (OR=1,58, p=0,003; OR=1,86, p=0,007, respectively) and prediabetes (OR=1,63, p=0,001; OR=1,87, p=0,005, respectively).

Conclusions

The associations of aforesaid polymorphic markers with the T2DM development in the Republic of Tatarstan have been proved, as well as the associations of the FTO and PPARGC1A genes polymorphisms with the development of early carbohydrate metabolism disorders.

Background and Aims

MC4R gene encodes melanocortin receptor type 4. The association of rs17782313 polymorphism MC4R gene with the obesity is proved.

The aim of study is to analyze the changes in body fat mass due to the rs17782313 T/C MC4R gene in overweight patients after 3 and 12 months of diet.

Methods

The study involved 16 overweight patients (the mean BMI 34.08±5.59 kg/m2) from 23 to 60 y.o. (the mean age 47.5±11.78). All patients took a balanced diet with the exclusion of simple and the limiting of complex carbohydrates and fats. The changes in body composition were estimated by the bioelectrical impedance analysis. Buccal cells PCR-based genotyping was performed on CFX96 amplifier.

Results

The distribution of rs17782313 polymorphism genotypes corresponded to the Hardy-Weinberg equilibrium (χ2 = 0.17; p = 0.68). The frequency of occurrence of the C allele differed from the European population (9% 24%; 1000 Genomes Project), which can be explained by the small sample size. TT homozygotes showed a significant decrease in body fat mass after 3 months of diet (p= 0.007) compared with C allele carriers (-4.56 ± 2.55 kg vs. + 0.38 ± 1.66 kg). There were no significant differences in changes in body composition in TT homozygotes compared with C-allele carriers after 12 months of diet (p> 0.05).

Conclusions

The presence of the C allele in the homozygous state of the rs17782313 MC4R is associated with less decreasing of fat mass during the 3 months of a generally accepted diet, no further differences in changes in body composition are observed.

Background and Aims

ADRB2 is the gene that encodes beta-2 adrenergic receptors which play the key role in the mobilization of lipids.

The aim of work is to study the changes in body composition depending on the rs1042713 ADRB2 gene in overweight patients treated by the diet.

Methods

18 overweight patients (from 23 to 60 y.o., the mean age 45,39±12,71; the mean BMI 33,71±5,48 kg/m2) were evaluated. All patients took a diet with limiting of simplex and complex carbohydrates and fats for 3 months. Body composition was evaluated by bioelectrical impedance analysis (BIA). PCR-based genotyping was performed on CFX96 analisator; buccal cells were used.

Results

The distribution of the frequency of alleles and genotypes corresponded to the Hardy-Weinberg equilibrium (χ2=0,000172531; p>0,05). A significant decrease of fat mass in patients with the absence of G-allele (-5,67±2,55 kg) relative to the group of carriers of the mutant allele (-2,73±2,759 kg; p=0,05) was revealed. All patients were invited for BIA 9 months after. Although there were no significant differences in changes of fat mass between the groups, G-allele carriers had less weight gain than the patients with the absence of the mutant allele. (0,22±2,24 kg vs. 2,44±2,02 kg; p=0,04).

Conclusions

Identification of the allele G of rs1042713 ADRB2 gene allows predicting a less intense loss of body fat mass during the common diet therapy of obesity and prognosing worse weight control in future.