2017, Number 6
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Ann Hepatol 2017; 16 (6)
Search for Genetic Modifiers of PSC: Time to Increase the Number of Needles in the Haystack
Krawczyk M, Lammert F
Language: English
References: 9
Page: 830-831
PDF size: 107.67 Kb.
ABSTRACT
Primary sclerosing cholangitis (PSC) belongs to the most obscure liver diseases. Patients with progressive PSC require liver transplantation
as only therapeutic option. Previously several HLA- and non-HLA-associated PSC risk variants have been discovered,
however their involvement in the development of PSC seems to be minor in comparison to environmental determinants. Lately, variant
rs853974 at the
RSPO3 gene locus has been shown to modulate the course of PSC. Here we briefly discuss the phenotypes related
to this polymorphism and propose alternative directions of research that might help to identify new genetic modifiers of PSC
progression.
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