A hundred genes expressed in blood vessels and gastrointestinal tissues are thought to be involved in hemorrhoidal disease.
- Hemorrhoidal disease could result from dysfunction of smooth muscle, epithelium, and connective tissue.
- Identifying genetic causes makes it possible to better identify people at risk and to develop more targeted treatments.
Hemorrhoidal crises would affect one in two adults from the age of fifty. Although painful, they are not serious. This vascular problem can occur in two places: either at the level of internal hemorrhoids, under the anal mucosa, or at the level of external hemorrhoids, which appear under the skin at the orifice of the anus. The origin of the disease remains uncertain. Australian researchers from the Monash University suggest that genetic predispositions come into play. They presented their results on April 22 in the gut.
A dysfunction at several levels
For the first time, researchers have therefore identified genetic causes of hemorrhoids. “Our research has analyzed the genetic makeup of nearly one million people through global collaboration and provided important insights into understanding hemorrhoidal disease.”, affirmed Dr. Tenghao Zheng, lead author of the study. With his team of scientists, they examined millions of DNA changes in the genome of 218,920 patients and 725,213 healthy people of European ancestry from data provided by biobanks and population cohorts.
The results revealed 102 new genomic regions affiliated with hemorrhoidal risk. These genes are mainly expressed in blood vessels and gastrointestinal tissues. They would be involved in the development and functioning of epithelial structures, which cover the inside of the intestine, and endothelial structures, which are found on the internal wall of the intestine. “Our study led us to conclude that hemorrhoidal disease can result from dysfunction of smooth muscle, epithelium and connective tissue.”, continues Dr. Tenghao Zheng.
Better identification of people at risk
The identification of a genetic cause at the origin of hemorrhoids could lead to better management of patients. If other studies confirm this link, individuals at risk could be more easily identified and receive more targeted treatments.
.
