Neanderthals are extinct hominins that interbred with ancestors of modern humans, and genetic variants of Neanderthal origin still persist in present‐day humans and play a role in human disease. This study shows that one variant of Neanderthal origin is associated with the genetic risk of developing a rare liver disease called primary biliary cholangitis.
A Genetic Risk Variant Associated With the Risk of Primary Biliary Cholangitis Is Inherited From Neanderthals / Gerussi, A., Caime, C., Wang, H., Cordell, H.J., Mells, G.F., Sandford, R.N., Jones, D.E., Hirschfield, G., Siminovitch, K.A., Gershwin, M.E., Juran, B.D., Atkinson, E.J., Cheung, A., Andrade, M.d., Baras, A., Lazaridis, K.N., Asselta, R., Invernizzi, P., Sironi, M., Sankararaman, S., et al.. - In: LIVER INTERNATIONAL. - ISSN 1478-3231. - ELETTRONICO. - 46:(2026), pp. 1-9. [10.1111/liv.70868]
A Genetic Risk Variant Associated With the Risk of Primary Biliary Cholangitis Is Inherited From Neanderthals
Tarocchi, MirkoMembro del Collaboration Group
2026
Abstract
Neanderthals are extinct hominins that interbred with ancestors of modern humans, and genetic variants of Neanderthal origin still persist in present‐day humans and play a role in human disease. This study shows that one variant of Neanderthal origin is associated with the genetic risk of developing a rare liver disease called primary biliary cholangitis.
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