<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>1665-2681</journal-id>
<journal-title><![CDATA[Annals of Hepatology]]></journal-title>
<abbrev-journal-title><![CDATA[Ann. Hepatol.]]></abbrev-journal-title>
<issn>1665-2681</issn>
<publisher>
<publisher-name><![CDATA[Asociación Mexicana de Hepatología A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1665-26812017000300451</article-id>
<article-id pub-id-type="doi">10.5604/16652681.1235489</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[GNPAT rs11558492 is not a Major Modifier of Iron Status: Study of Italian Hemochromatosis Patients and Blood Donors]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Greni]]></surname>
<given-names><![CDATA[Federico]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Valenti]]></surname>
<given-names><![CDATA[Luca]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mariani]]></surname>
<given-names><![CDATA[Raffaella]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pelloni]]></surname>
<given-names><![CDATA[Irene]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rametta]]></surname>
<given-names><![CDATA[Raffaela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Busti]]></surname>
<given-names><![CDATA[Fabiana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ravasi]]></surname>
<given-names><![CDATA[Giulia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Girelli]]></surname>
<given-names><![CDATA[Domenico]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Fargion]]></surname>
<given-names><![CDATA[Silvia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Galimberti]]></surname>
<given-names><![CDATA[Stefania]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Piperno]]></surname>
<given-names><![CDATA[Alberto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
<xref ref-type="aff" rid="A a"/>
<xref ref-type="aff" rid="A6"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pelucchi]]></surname>
<given-names><![CDATA[Sara]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,University of Milano-Bicocca School of Medicine and Surgery ]]></institution>
<addr-line><![CDATA[Monza ]]></addr-line>
<country>Italy</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,University of Milano  ]]></institution>
<addr-line><![CDATA[Milano ]]></addr-line>
<country>Italy</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,S.Gerardo Hospital Centre for Disorder of Iron Metabolism ]]></institution>
<addr-line><![CDATA[Monza ]]></addr-line>
<country>Italy</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,University of Verona Department of Medicine Policlinico GB Rossi ]]></institution>
<addr-line><![CDATA[Verona ]]></addr-line>
<country>Italy</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,University of Milano-Bicocca Centre of Biostatistics for Clinical Epidemiology ]]></institution>
<addr-line><![CDATA[Monza ]]></addr-line>
<country>Italy</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Consortium for Human Molecular Genetics  ]]></institution>
<addr-line><![CDATA[Monza ]]></addr-line>
<country>Italy</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2017</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2017</year>
</pub-date>
<volume>16</volume>
<numero>3</numero>
<fpage>451</fpage>
<lpage>456</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1665-26812017000300451&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1665-26812017000300451&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1665-26812017000300451&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Background and Aim. HFE-related Hemochromatosis (HH) is characterized by marked phenotype heterogeneity, probably due to the combined action of acquired and genetic factors. Among them, GNPATrs11558492 was proposed as genetic modifier of iron status, but results are still controversial. To shed light on these discrepancies, we genotyped 298 Italian p.C282Y homozygotes and 169 healthy controls.  Material and methods.  Allele and genotype frequencies were analysed and compared with those reported in Exorne Variant Server (EVS). To explore the role of rs11558492 as a potential modifier of iron status, serum ferritin (SF), liver iron concentration (LIC) and iron removed (IR) were studied according to allele and genotype frequencies. In addition, the effect of the SNP on liver fibrosis was examined comparing patients with absent/mild-moderate fibrosis to those with severe fibrosis-cirrhosis.  Results. GNPAT rs11558492 minor allele (G) frequency (MAF) was 20.3% in HFE- HH, 17.2% in controls and 20.6% in EVS database. Genotype frequencies were 64% and 69.2% (AA), 31.2% and 27.2% (AG), 4.8% and 3.6% (GG) in HFE-HH and controls, respectively. No significant differences were found comparing genotype and allele frequencies even selecting subgroups of only-males with extreme phenotypes and low alcohol intake. SF, IR and LIC levels did not significantly differ according to rs11558492 genotypes. Also, MAF did not differ between patients with absent/mild fibrosis and severe fibrosis/cirrhosis.  Conclusions.  Our findings indicate that GNPAT rs11558492 is not a major modifier of iron status and is not associated with liver fibrosis in HFE- HH patients.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Glyceronephosphate O-acyltransferase]]></kwd>
<kwd lng="en"><![CDATA[Hereditary hemochromatosis]]></kwd>
<kwd lng="en"><![CDATA[Iron overload]]></kwd>
<kwd lng="en"><![CDATA[Polymorphism]]></kwd>
<kwd lng="en"><![CDATA[Serum ferritin]]></kwd>
</kwd-group>
</article-meta>
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