12. 4. 2021 |

Non-alcoholic fatty liver disease (NAFLD) is a disease in which fat accumulates in the liver without excessive alcohol consumption. It is related, among other things, to the development of diabetes II. type, obesity and also genetic predisposition and is therefore an increasingly common diagnosis. It is estimated that more than a quarter of the world's population suffers from NAFLD.

An international research team, whose members were also scientists from The International Clinical Research Center of St. Anne's University Hospital Brno (FNUSA-ICRC), focused in its work on how NAFLD is affected by genetic variations. Their article entitled "Pediatric Non-Alcoholic Fatty Liver Disease is Affected by Genetic Variants Involved in Lifespan / Healthspan" was published in the Journal of Pediatric Gastroenterology and Nutrition.

"We investigated the impact of single nucleotide polymorphisms (SNPs), which are related to lifespan," said Manlio Vinciguerra, Ph.D. MSc, Principal Investigatorof Epigenetics, Metabolism and Aging research team of FNUSA-ICRC. Single nucleotide polymorphisms are variations in a single nucleotide in the human genome and are the basis of differences in our susceptibility to various diseases.

The research was performed on a sample of 177 patients with this diagnosis with an average age of 13.7 years. As a control, there were 146 healthy individuals. 10 single nucleotide polymorphism were selected, which are demonstrably related to metabolism and also to liver function. "We used multidimensional reduction analysis and control of SNP-SNP interactions on the obtained samples in order to identify the effect of the examined SNPs in the prediction of NAFLD and related complications," described Dr. Vinciguerra.

The results showed that all examined SNPs are related to individual metabolic features of NAFLD, however, none was significantly associated with its diagnosis. Subsequent testing of potential synergies revealed that the combination of IL-6 rs1800795 and ANRIL rs1556516 could be used to diagnose NAFLD and to estimate their life expectancy. "To confirm whether the genetic interaction between the two genes affects the development of this disease in children, another, larger, study will be needed," added Dr. Vinciguerra.

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