Brain-derived neurotrophic factor (BDNF) has an important role in energy balance. It suppresses food intake, reduces hepatic glucose production and converts white fat into brown fat in adipose tissue, leading to energy dissipation, lowered blood glucose and a lean phenotype. Studies have shown that the single nucleotide polymorphism (SNP) Val66Met within BDNF may be associated with obesity, insulin sensitivity, type 2 diabetes mellitus (T2DM) and dyslipidemia. The objective of the study was to investigate the association of the Val66Met polymorphism with body mass index (BMI), fasting glucose levels and lipid profile in Serbian adolescents. The study included 308 randomly selected healthy adolescents, 153 (49.68%) boys and 155 girls (50.32%), 15 years of age. Data including age, gender, height, weight, lipid profile and fasting glucose were recorded. Genotyping was performed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. No association of this polymorphism was found with BMI and lipid profile. However, significant association was observed between this polymorphism and fasting blood glucose (FBG). Carriers of a Val/Val genotype had significantly higher mean values of fasting glucose level compared to carriers of Val/ Met and Met/Met genotypes (p = 0.01). To confirm these results multiple linear regression analysis was performed. Body mass index and gender were taken as covariates. Carriers of the Val/Val genotype had significantly higher levels of FBG (β = -0.152, p = 0.02). A statistically significant association between BMI and glucose level was also observed (β = 0.124,p = 0.033). This polymorphism could be associated with fasting glucose level in Serbian adolescents, thus further research would be of great interest to validate these results.
The enzymes of the cytochrome P450 superfamily play a critical role in phase I drug metabolism. Among them, CYP2C9 and CYP2C19 are clinically important, as they can mediate severe toxicity, therapy failure, and increased susceptibility to cancer and other diseases caused by chemicals. The aim of this study was to determine the prevalence of pharmacologically most important allelic variants of the CYP2C9 and CYP2C19 genes in the general population of the Republic of Srpska (Bosnia and Herzegovina) and to compare them with other populations. For this purpose we determined the genotype profile and allele frequency of 216 randomly selected healthy volunteers using real-time polymerase chain reaction (RT-PCR). The prevalence of the CYP2C9 *2 and *3 alleles was 13.6 and 7.4 %, respectively. Based on these frequencies, of the 216 participants four (1.86 %) were predicted to be poor metabolisers, 78 (36.11 %) intermediate, and the remaining 134 (62.03 %) normal metabolisers. Based on the prevalence of CYP2C19 *2 and *17 variants – 16.2 and 20.4 %, respectively – nine (4.17 %) were predicted to be poor, 57 (26.39 %) rapid, and nine (4.17 %) ultra-rapid metabolisers. We found no significant differences in allele frequencies in our population and populations from other European countries. These findings suggest that genetically determined phenotypes of CYP2C9 and CYP2C19 should be taken into consideration to minimise individual risk and improve benefits of drug therapy in the Republic of Srpska.
Background/Aim: Peroxisome proliferator-activated receptor gamma (PPARg) belongs to a family of nuclear hormone receptors and ligand-activated transcription factors. PPARG gene is expressed in many tissues including adipose tissue where it plays a crucial role in differentiation of adipocyte, insulin resistance, blood glucose levels and lipid metabolism. The aim of the study was to examine the association of rs3856806 polymorphism with the body mass index (BMI), fasting glucose levels and lipid parameters in Serbian adolescents. Methods: This research included 287 adolescents of both genders (143 boys and 144 girls), 14-15 years of age. Genotype detection was done by polymerase chain reaction-restriction fragment length polymorphism (RFLP) assay. Results: Results showed statistically significant difference in terms of fasting glucose levels among girls (p = 0.013) depending on their genotype. Female carriers of CC genotype had significantly higher level of fasting glucose levels. Also, results showed that in the group of overweight and obese girls, carriers of CT or TT genotype had statistically significant lower values of HDL cholesterol compared to girls - carriers of CC genotype (p = 0.000). However, this result was not confirmed by multiple regression analysis. Statistically significant association of rs3856806 polymorphism was not observed with BMI nor with other lipid parameters. Conclusion: This polymorphism is associated with fasting glucose level and HDL cholesterol among girls. To draw definite conclusions, further research should be conducted including non-genetic factors and other polymorphisms among this gene.
Background/Aim: Irritable bowel syndrome (IBS) belongs to the gastrointestinal disorders characterised by abdominal discomfort and pain, altered constipation, diarrhoea and stomach distension. The aim was to assess relationship between the selected genetic polymorphisms with IBS, their combined genotype effect as well as to assess a difference in the distribution of allele and genotype frequencies of selected loci between case and control group. Methods: This was a prospective study which included 29 participants, 20 individuals diagnosed with IBS based on Rome III criteria and 9 healthy individuals. The study analysed the selected genetic polymorphisms as possible risk factors for IBS according to the model of the case-control study. Genotyping was performed for FKBP5, DRD2 and DAT polymorphisms qualified as risk factors for IBS in previous researches. Results: The results revealed a significant association between DAT polymorphism with IBS, both, at the allelic level (p = 0.006) and genotype level (p = 0.031). Individuals with 434 allelic variant in the genotype have six time higher probability for developing IBS, in comparison to the individuals without this allelic variant. The statistical association between other analysed polymorphism and IBS was not reached. The analysis of combined effects of selected polymorphisms revealed no association with IBS, except FKBP5 and DAT which result was at the level of statistical significance (p = 0.05). Conclusion: Further analysis which would include DAT polymorphism with larger sample size, as well as other genes involved in dopamine neurotransmitter system would be of great interest to define closer conclusion of IBS aetiology.
PPARGC1A is involved in many metabolic processes including normal mitochondrial biogenesis, oxidation of glucose and lipids and transport of glucose into skeletal muscles. Previous researches linked this polymorphism with the higher risk of developing type 2 diabetes, metabolic syndrome and obesity. The aim of the study was to investigate the association of Gly482Ser with body mass index (BMI), fasting glucose levels and lipid profile in Serbian adolescents. The study included 147 boys and 150 girls, 15 years of age. Anthropometric and biochemical parameters were recorded. Cardiovascular and malignant diseases, type 2 diabetes, cerebral palsy and genetics syndrome were criteria for exclusion. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (RFLP) assay. The results showed that boys carriers of GG genotype had statistically higher mean values of TC compared to the boys who were carriers of GA+AA genotypes (p=0.033). However, statistical significance was not obtained for the other analyzed parameters. Furthermore, in the group of overweight and obese children, higher mean values of TC and LDL-C were observed in the carriers of GG genotype compared to carriers of GA+AA genotype for all the adolescents, as well as in the group of girls. No correlation was observed for values of BMI, fasting blood glucose and levels of triglycerides. To confirm these results, further research with larger sample size and non-genetics factor taking into consideration, would be of great interest.
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