ETHNIC DIFFERENCE FREQUENCIES OF THSD7A VARIANT, BUT NO ASSOCIATION WITH OBESITY

The THSD7A gene has recently been described as a "obesity gene". The product of this gene significantly modulates angiogenesis, a process linked to adipogenesis, growth of adipose tissue and the development of an obese phenotype. It can therefore be assumed that the role of this gene in obesity may be due to its angiogenic activity. The aim of this study was to analyze allele and genotypic frequencies of rs1526538 polymorphism in THSD7A gene and investigate its possible relationship with obesity indicators. The study included 407 individuals of Roma origin and 229 individuals of the majority population in eastern Slovakia. Anthropometric measurements of body height (cm), body weight (kg), waist circumference (cm), and hip circumference (cm) were performed by standard methods to all participants, and BMI, WHR and WHTR indexes were calculated. Buccal mucosa sample were obtained from all the participants and DNA isolation was performed by the commercial kit. SNP genotyping was done using the TaqMan SNP Genotyping Assays. The frequency of the risk allele A was 47.9% in the Roma population and 60.9% in the Slovak majority, suggesting ethnic variability in the frequency of this polymorphism. No significant relationship of this polymorphism with obesity was confirmed in association analysis. Our study provided the evidence for ethnic difference frequency of rs1526538 in THSD7A gene, but did not confirm relationship between this polymorphism and obesity traits. However, further studies are needed to confirm or reject the hypothesis that this genetic determinant of angiogenesis is involved in the etiopathogenesis of obesity.