The LRP1 Gene Polymorphism is associated with Increased Risk of Metabolic Syndrome Prevalence in the Serbian Population.

The determination of genetic background in metabolic syndrome (MetS) represents one of the necessary steps to prevent the disorder, thus reducing the cost of medical treatments and helping to design targeted therapy. The study explores the association between individual alleles of the LRP1 gene and the diagnosis of MetS to find correlation between the low-density lipoprotein receptor-related (LRP1) gene polymorphism and each individual anthropometric and biochemical parameter. The study included 93 males and females, aged from 19 to 65, divided into two groups. The genotype of each person was determined from the restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) profile. Results indicated the association of the T allele form of exon 3 LRP1 gene with development and progression of MetS that further pointed out its negative impact on tested anthropometric and biochemical parameters. The presence of the T allele in patients multiplies the chance of occurrence of deviations from the reference values of body mass index (BMI), (4.24-fold) and low-density lipoprotein (LDL) (20.26-fold) compared to C allele carriers. The results showed that T allele presence multiplies the chance (4.76 fold) for the occurrence of MetS in comparison to C allele carriers. Correlation found that the T allele of the LRP1 gene with MetS determinants is not negligible, therefore, the T allele may be considered as a risk factor for MetS development.

Polymorphism Val103Ile of the melanocortin-4 receptor gene in the Serbian population.

The melanocortin-4 receptor (MC4R) plays an important role in weight and energy homeostasis and it is associated with lower risk to develop obesity and lower body mass index. The contribution of MC4R mutation to obesity in Vojvodina (Northern Province of Serbia), known as a region with the largest number of overweight people, has not been previously investigated. The objective of this study was to examine the Val103Ile polymorphism of MC4R in a population of Vojvodina and its association with obesity. The study was carried out in a group of 96 persons: 62 obese and 34 normal weight men and women. Anthropometric measurements and cardiovascular risk factors assessment were done. The genotypes were determined by PCR-RFLP. In our on going study, three subjects were heterozygous for Val103Ile mutation (3.12%), and one was homozygous for 103Ile allele (1.04%). Among obese patients no isoleucine allele homozygous was found. The frequencies of the 103Ile allele in a group of obese and normal weight persons were found to be 1.61 and 4.41%, respectively. Val103Ile polymorphism of melanocortin-4 receptor is unlikely to be a major cause of overweight and obesity in Vojvodina, but further studies on larger groups of patients are needed.