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Variant adiponutrin...
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Krawczyk, M.
(författare)
Variant adiponutrin confers genetic protection against cholestatic itch
- Artikel/kapitelEngelska2014
Förlag, utgivningsår, omfång ...
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2014-10-09
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Springer Science and Business Media LLC,2014
Nummerbeteckningar
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LIBRIS-ID:oai:gup.ub.gu.se/205857
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https://gup.ub.gu.se/publication/205857URI
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https://doi.org/10.1038/srep06374DOI
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Ämneskategori:ref swepub-contenttype
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Ämneskategori:art swepub-publicationtype
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Lysophosphatidic acid (LPA) mediates cholestatic pruritus. Recently the enzyme PNPLA3, expressed in liver and skin, was demonstrated to metabolise LPA. Here we assess the association of the PNPLA3 variant p.Ile148Met, known to be associated with (non-)alcoholic fatty liver disease (NAFLD) in genome-wide association studies, with cholestatic itch in 187 patients with primary biliary cirrhosis (PBC) and 250 PBC-free controls as well as 201 women with intrahepatic cholestasis of pregnancy (ICP) and 198 female controls without a history of ICP. Our hypothesis was that the intensity of cholestatic itch differs in carriers of distinct PNPLA3 p.Ile148Met genotypes. Patients with PBC carrying the allele p.148Met that confers an increased NAFLD risk reported less itching than carriers of the p.148Ile allele (ANOVA P = 0.048). The PNPLA3 p.148Ile allele increased the odds of requiring plasmapheresis for refractory pruritus (OR = 3.94, 95% CI = 0.91-17.00, P = 0.048). In line with these findings, the PNPLA3 p.148Met allele was underrepresented in the ICP cohort (OR = 0.66, 95% CI = 0.47-0.92, P = 0.013). Notwithstanding the need for further replication of these findings, we conclude that the PNPLA3 allele p.148Met might confer protection against cholestatic pruritus, possibly due to increased LPA-acyltransferase activity in liver and/or skin.
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Milkiewicz, M.
(författare)
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Marschall, Hanns-Ulrich,1954Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine(Swepub:gu)xmarsh
(författare)
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Bartz, C.
(författare)
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Grunhage, F.
(författare)
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Wunsch, E.
(författare)
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Milkiewicz, P.
(författare)
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Lammert, F.
(författare)
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Göteborgs universitetInstitutionen för medicin, avdelningen för molekylär och klinisk medicin
(creator_code:org_t)
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Ingår i:Scientific Reports: Springer Science and Business Media LLC42045-2322
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