Genetic algorithms identify individuals with high risk of severe liver disease caused by schistosomes

Hélia Dessein, Nicolas Duflot, Audrey Romano, Christopher Opio, Valeria Pereira, Carla Mola, Narcis Kabaterene, Ana Coutinho, Alain Dessein

Research output: Contribution to journalReview articlepeer-review

8 Citations (Scopus)


Schistosomes induce severe hepatic disease, which is fatal in 2–10% of cases, mortality being higher in cases of co-infection with HBV or HCV. Hepatic disease occurs as a consequence of the chronic inflammation caused by schistosome eggs trapped in liver sinusoids. In certain individuals, the repair process leads to a massive accumulation of fibrosis in the periportal spaces. We and others have shown that genetic variants play a crucial role in disease progression from mild to severe fibrosis and explain why hepatic fibrosis progresses rapidly in certain subjects only. We will review here published findings concerning the strategies that have been used in the analysis of hepatic fibrosis in schistosome-infected individuals, the genetic variants that have associated with fibrosis, and variants in new pathways crucial for fibrosis progression. Together, these studies show that the development of fibrosis is under the tight genetic control of various common variants with moderate effects. This polygenic control has made it possible to develop models that identify schistosome-infected individual at risk of severe hepatic disease. We discuss the performances and limitations of these models.

Original languageEnglish
Pages (from-to)821-831
Number of pages11
JournalHuman Genetics
Issue number6-7
Publication statusPublished - 1 Jun 2020
Externally publishedYes


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