Variants in PCSK7, PNPLA3 and TM6SF2 are risk factors for the development of cirrhosis in hereditary haemochromatosis.
Stephan BuchAneesh SharmaEleanor RyanChristian DatzWilliam J H GriffithsMichael WayThomas W M BuckleyJohn D RyanStephen StewartCallum WrightPaola DongiovanniAnna FracanzaniJochen ZwerinaUta MerleKarl Heinz WeissElmar AignerElisabeth KronesChristian DejacoJanett FischerThomas BergLuca ValentiHeinz ZollerAndrew McQuillinJochen HampeFelix StickelMarsha Yvonne MorganPublished in: Alimentary pharmacology & therapeutics (2021)
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.