The aim of this study was to investigate the effect of selected polymorphism FTO rs1121980 on body mass index in humans. In the study participated 79 people from Slovakia with some genetic relatedness. The column kit has been used to isolate the genomic DNA from a buccal swab. Genotyping of single nucleotide polymorphism rs1121980 of FTO gene was performed by amplification-refractory mutation system (ARMS). The most common genotype was found in heterozygous form (CT = 0.4051). The least frequent genotype in FTO was CC (0.2911) and the minor C allele reached frequency 0.49365. The FTO gene had increased frequency of T allele (0.50635). According to the results it can be assumed that the genotype CC (FTO rs1121980) has a protective effect on the prevalence of obesity compared to the other genotypes. With adding of the anthropometric measurements, blood test and extension of the group, the statistical relevance could increase in the future in relation to obesity.Keywords: body mass index (BMI), FTO gene, human obesity, SNP polymorphism, rs1121980
IntroductionThe nowadays incidence of obesity is increasing as in children population, same in the adult one. Is a worldwide chronic disease and there should be take into account many aspects they are influencing the prevalence also with consideration of non-nutritive origin.Promising approaches such as whole exome and eventually whole genome sequencing, in addition to studies exploring short and long-range interactions between genes leading to obesity have the potential to guide to an exhaustive map of obesity predisposing genes in the near future. Gene identification efforts using the genetic studies have provided a more broad aspect to understand the biological mechanisms involved in the development of obesity and this information can be important not only for scientists and clinicians but for a general population too (Srivastava A., Srivastava N., Mittal, 2015).Zhang et al. (2010) confirmed the association of common variants of FTO gene with ''body fatness'' measures in an isolated island population. They also observed evidence of pleiotropic effects of FTO gene on fat-free mass, such as frame size and muscle mass assessed by bicondilar upper arm width and upper arm circumference respectively and these pleiotropic effects might be influenced by variants that are different from the ones associated with ''body fatness ''. Hinney et al. (2007) found that variation in FTO strongly contributes to early onset obesity.Some from the single nucleotide polymorphisms (SNP) in the FTO gene are showing a much stronger association with all-cause mortality than expected from its association with body mass index (BMI), body fat mass index (FMI) and waist circumference (WC). This finding implies that the SNP has strong pleiotropic effects on adiposity and adiposity-independent pathological pathways that leads to increased mortality, but Zimmermann et al. (2014) did not found that FTO SNP is associated with allcause mortality independently of the adiposity phenotypes in comparing with p...