Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis.

doi:10.1093/hmg/ddu076

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Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis.

Human molecular genetics - 15 Jul 2014

Stickel Felix, Buch Stephan, Zoller Heinz, Hultcrantz Rolf, Gallati Sabina, Österreicher Christoph, Finkenstedt Armin, Stadlmayr Andreas, Aigner Elmar, Sahinbegovic Enijad, Sarrazin Christoph, Schafmayer Clemens, Braun Felix, Erhart Wiebke, Nothnagel Michael, Lerch Markus M, Mayerle Julia, Völzke Henry, Schaller André, Kratzer Wolfgang, Boehm Bernhard O, Sipos Bence, D'Amato Mauro, Torkvist Leif, Stal Per, Arlt Alexander, Franke Andre, Becker Thomas, Krawczak Michael, Zwerina Jochen, Berg Thomas, Hinrichsen Holger, Krones Elisabeth, Dejaco Christian, Strasser Michael, Datz Christian, Hampe Jochen

Abstract excerpt

Genome-wide association studies (GWAS) have revealed genetic determinants of iron metabolism, but correlation of these with clinical phenotypes is pending. Homozygosity for HFE C282Y is the predominant genetic risk factor for hereditary hemochromatosis (HH) and may cause liver cirrhosis. However, this genotype has a low penetrance. Thus, detection of yet unknown genetic markers that identify patients at risk of...

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Identifiers

PMID: 24556216
DOI: 10.1093/hmg/ddu076

Genes

HFE
PCSK7
PNPLA3
TFR2
TMPRSS6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis.PMID 24556216Read ↗

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