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

A Correction to this article was published on 22 May 2020

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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.

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  • 22 May 2020

    In the original article publication, the affiliation of the author Ana Coutinho is incorrect.


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Funding was provided by INSERM (Grant no. U906).

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Correspondence to Alain Dessein.

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A. Dessein, H. Dessein, N. Duflot, and A. Romano are employees of BILHI genetics A. Dessein owns stock in BILHI Genetics and is a member of BILHI Genetics Scientific committee.

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This work has received the approval of French and Brazilian Ethics Committees. Study subjects have given informed consent for their participation in this work.

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Dessein, H., Duflot, N., Romano, A. et al. Genetic algorithms identify individuals with high risk of severe liver disease caused by schistosomes. Hum Genet 139, 821–831 (2020).

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