Padronização de reações de genotipagem para kit de diagnóstico para predisposição de obesidade e suas comorbidades

Abstract

Obesity is a serious public health problem, associated with several diseases, such as type 2 diabetes mellitus, metabolic syndrome, heart disease, among others. Although it is influenced by environmental and sociocultural factors, genetic predisposition plays a significant role in its development. With the advancement of genotyping techniques, it has become possible to perform comprehensive genetic investigations, which provide millions of results at a lower cost. However, only a small fraction of these polymorphisms are relevant for the genetic diagnosis of predisposition to diseases associated with obesity, which makes the vast majority of data irrelevant. In addition, the performance of these tests is still limited to a few laboratories with specialized equipment, which makes their clinical application difficult. The objective of this work was to standardize polymorphisms for the diagnosis of genotypes related to obesity and its comorbidities, in addition to developing a genotyping kit that uses low- cost alternatives for genetic diagnosis. The reactions for the polymorphisms rs3813627, rs11872992, rs10830963 and rs4673 in the genes Apolipoprotein 2, Melanocortin-4 Receptor, Melatonin Receptor 1B and Human Neutrophil Cytochrome Light Chain, respectively, were standardized using an efficient and low-cost method. These methods are already in the patent process, joining six other genetic variations already patented in our laboratory. The standardization of new genetic variations and the future production of a polygenic kit for identifying obesity and its comorbidities, with an interpretation manual, aim to facilitate the diagnosis and treatment of these conditions using low-cost and more accessible methods.