Genes Responsible for Duodenal Ulcers Found by Russian Scientists

Russian scientists from the National Research University ‘Belgorod State University’ (BelSU), jointly with colleagues from Saudi Arabia, have become the first in the world to discover and describe the association of proteolytic enzyme genes with the duodenal ulcer in a Caucasian population from Central Russia.

The authors of the research believe that their findings can already be used in practical gastroenterology and medical training. Their research was published in the Journal of King Saud University – Science.

Duodenal ulcers affect up to 10 percent of the world's population, the article reports. Helicobacteriosis, caused by Helicobacter pylori bacteria, has a particularly strong influence on its development. Excessive use of alcohol and tobacco, a poor diet, abuse of medications (such as aspirin) and other factors can also lead to the disease.

All these negative factors simultaneously provoke an increased production of hydrochloric acid in the stomach and a violation of the mucosal barrier on the walls of the intestinal tract. Constant inflammation of damaged mucosa in an acidic environment leads to the formation of ulcers.

Mikhail Churnosov. NRU BelSU laboratory

© Photo : NRU BelSU

Medical practice shows that this process rapidly progresses in some patients and deeply affects the intestines, whereas in other patients the disease does not develop even under extremely unfavorable conditions. According to scientists at Belgorod State University (BelSU), they and their colleagues from Alfaisal University have succeeded in showing that genetic factors play a decisive role in the development of the disease.

“We were the first in the world to discover the association of polymorphic variants of the matrix metalloproteinase-9 gene with the development of duodenal ulcer in H. pylori-infected individuals. Moreover, we have established specific genetic markers associated with an increased risk of disease development in the population of Central Russia,” said Mikhail Churnosov, head of the Department of Medical Biological Disciplines at Belgorod State University.

According to the authors of the study, the data they obtained can already be used in practical gastroenterology (to identify a risk group in a healthy population), as well as in the medical genetics and gastroenterology training.

“There have been only three previous attempts at genetic studies of this kind in the world that have yielded mixed results. The scientific facts established in the present study significantly expand the scientific world's understanding of the role of matrix metalloproteinase genes in the formation of duodenal ulcer,” emphasized Churnosov.

The published results indicate gene alleles associated with an increased risk of duodenal ulcer and alleles that increase the risk of developing the disease in people infected with Helicobacteriosis.

The scientific team used modern methods of molecular genetic analysis and genetic-statistical analysis of experimental data. The bioinformatics models developed at BelSU, according to the authors, made it possible to use the world databases on functional genomics to assess the association of the studied polymorphisms with epigenetic modifications, gene expression, and alternative splicing.

At present, the research team continues to study the molecular genetic basis of a number of frequently occurring human diseases.

The department's research activities in 2020 were supported by Presidential Grants for Leading Scientific Schools of the Russian Federation “Studying the Molecular Genetic Basis of Common Human Diseases” (Project NSH-2609.2020.7).