Genomic Analysis Reveals New Genetic Markers For Ulcers In European And Asian Populations, Potentially Leading To Targeted Treatments


A groundbreaking genomic study comparing Japanese and European populations has identified 25 new genetic markers linked to stomach and duodenal ulcers. The research, published in the journal Nature Genetics, suggests that while these ulcers share some genetic factors, stomach ulcers have more diverse causes. The study also identified a genetic link to Helicobacter pylori, a bacterium commonly associated with ulcers. The findings indicate that the differentiation of stomach cells and the regulation of hormones play crucial roles in ulcer development.

Peptic ulcers, which occur due to the erosion of the lining of the stomach, lower esophagus, or upper small intestine, affect approximately 8 million people annually and can cause severe gastrointestinal symptoms. Previous studies on this disease have predominantly focused on European populations. However, researchers believe that genetic variation among populations worldwide may contribute to differences in disease manifestation. Varieties and conditions of ulcers can differ across regions. For instance, stomach ulcers are more prevalent in Japan, while duodenal ulcers are more common in Europe.

Professor Yoichiro Kamatani from the University of Tokyo’s Department of Computational Biology and Medical Sciences stated, “We performed a large-scale genome study of more than 50,000 peptic ulcer patients and 900,000 controls of East Asian or European ancestries.” Combining multiple previous studies, the researchers successfully identified 25 genomic areas associated with peptic ulcers. These findings are a significant step towards the identification of new treatments.

The study also explored the link between Helicobacter pylori and ulcer development. It confirmed that the bacterium can infect individuals with specific genes identified in the study, further increasing the risk of peptic ulcers. Notably, the infection is more prevalent in East Asian populations than in European populations. Despite this geographic variation, the 25 newly discovered genetic markers for ulcer susceptibility are common to both European and Asian populations, suggesting that additional factors beyond genetics contribute to the differences in disease prevalence.

Professor Kamatani explained, “Building upon our previous studies, we concluded that the differentiation of gastrointestinal cells during gastric repair and the regulation of gastrointestinal hormones play critical roles in the formation of peptic ulcers.” This knowledge may aid in the development of targeted drugs to alleviate symptoms, and the genetic analysis could enhance risk assessment for peptic ulcers, even at the individual level.

Previously, this research was challenging due to the extensive data sets required for analysis and limitations in the ability to sequence single cells from the human stomach and duodenum. However, recent advancements have enabled large-scale cross-population studies like this one, unveiling new possibilities for understanding how different diseases impact diverse populations.

Professor Kamatani emphasized the importance of including diverse ancestry in studies of complex traits, stating, “This serves as the foundation for translation into clinical interventions that can reduce suffering for millions of people around the world.” The findings from this study pave the way for targeted treatments and personalized approaches to manage the debilitating effects of peptic ulcers.

1. Source: Coherent Market Insights, Public sources, Desk research
2. We have leveraged AI tools to mine information and compile it