Variants in PCSK7, PNPLA3 and TM6SF2 are risk factors for the development of cirrhosis in hereditary haemochromatosis
Alimentary Pharmacology & Therapeutics2021Vol. 53(7), pp. 830–843
Citations Over TimeTop 18% of 2021 papers
Stephan Buch, Aneesh Sharma, Eleanor Ryan, Christian Datz, William J. Griffiths, Michael Way, Thomas W. M. Buckley, John Ryan, Stephen Stewart, Callum Wright, Paola Dongiovanni, Anna Ludovica Fracanzani, Jochen Zwerina, Uta Merle, Karl Heinz Weiss, Elmar Aigner, Elisabeth Krones, Christian Dejaco, Janett Fischer, Thomas Berg, Luca Valenti, Heinz Zoller, Andrew McQuillin, Jochen Hampe, Felix Stickel, Marsha Y. Morgan
Abstract
The risk of cirrhosis associated with carriage of PCSK7:rs236918 was confirmed in this much larger population of C282Y homozygotes. In addition, PNPLA3:rs738409 and TM6SF2:rs58542926 were established as significant additional risk factors. More detailed genetic testing of C282Y homozygotes would allow risk stratification and help guide future management.
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