<?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>1889-836X</journal-id>
<journal-title><![CDATA[Revista de Osteoporosis y Metabolismo Mineral]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Osteoporos Metab Miner]]></abbrev-journal-title>
<issn>1889-836X</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Española de Investigaciones Óseas y Metabolismo Mineral]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1889-836X2021000400003</article-id>
<article-id pub-id-type="doi">10.4321/s1889-836x2021000400003</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[La variante missense rs2908004 de WNT16 actúa como eQTL de FAM3C en osteoblastos primarios humanos]]></article-title>
<article-title xml:lang="en"><![CDATA[WNT16 rs2908004 missense variant acts as eQTL of FAM3C in human primary osteoblasts]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martínez-Gil]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Patiño]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ugartondo]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Grinberg]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Balcells]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="A01">
<institution><![CDATA[,Universitat de Barcelona Facultad de Biología Departamento de Genética, Microbiología y Estadística]]></institution>
<addr-line><![CDATA[Barcelona ]]></addr-line>
<country>España</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2021</year>
</pub-date>
<volume>13</volume>
<numero>4</numero>
<fpage>117</fpage>
<lpage>121</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S1889-836X2021000400003&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_abstract&amp;pid=S1889-836X2021000400003&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_pdf&amp;pid=S1889-836X2021000400003&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción: WNT16 es un gen importante en la homeostasis ósea, que se encuentra en un locus muy complejo que también incluye los genes vecinos: ING3. FAM3C y CPED1. Además del claro papel de WNT16 sobre la determinación de la densidad mineral ósea (DMO), también se han encontrado pruebas sobre la importancia de estos tres genes vecinos en el metabolismo óseo. Queda por tanto esclarecer si las variantes en WNT16 asociadas a la DMO realizan su efecto propiamente sobre WNT16 o si lo hacen modificando la expresión de estos genes vecinos.  Material y métodos: Hemos determinado los niveles de expresión de CPED1 y FAM3C en osteoblastos primarios y hemos comprobado si variantes de WNT16 se comportan como loci de rasgos cuantitativos de expresión (expresion quantitative trait loci; eQTL) de estos genes.  Resultados: La variante de cambio de aminoácido rs2908004 en WNT16 actúa como eQTL de FAM3C en osteoblastos primarios bajo la hipótesis de modelo dominante.  Discusión: Es posible que el efecto de esta variante sobre la DMO sea debido a la modificación de los niveles de expresión de FAM3C además o en vez de un efecto directo de la proteína WNT16 mutante resultante del cambio de aminoácido.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Summary  Introduction: WNT16 is an important gene in bone homeostasis, found in a very complex locus that also includes neighboring genes: ING3, FAM3C, and CPED1. In addition to the clear role of WNT16 in determining bone mineral density (BMD), evidence has also been found for the importance of these three neighboring genes in bone metabolism. Therefore, it remains to be clarified whether the variants in WNT16 associated with BMD carry out their effect on WNT16 or if they do so by modifying the expression of these neighboring genes.  Material and methods: We have determined the expression levels of CPED1 and FAM3C in primary osteoblasts and we have verified whether WNT16 variants behave as loci of quantitative expression traits (expression quantitative trait loci; eQTL) of these genes.  Results: The amino acid change variant rs2908004 in WNT16 acts as the eQTL of FAM3C in primary osteoblasts under the dominant model hypothesis.  Discussion: It is possible that the effect of this variant on BMD is due to the modification of the expression levels of FAM3C in addition to or instead of a direct effect of the mutant WNT16 protein resulting from the amino acid change.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[WNT16]]></kwd>
<kwd lng="es"><![CDATA[densidad mineral ósea]]></kwd>
<kwd lng="es"><![CDATA[osteoporosis]]></kwd>
<kwd lng="es"><![CDATA[transcripción]]></kwd>
<kwd lng="en"><![CDATA[Bone mineral density]]></kwd>
<kwd lng="en"><![CDATA[WNT16]]></kwd>
<kwd lng="en"><![CDATA[osteoporosis]]></kwd>
<kwd lng="en"><![CDATA[transcription]]></kwd>
</kwd-group>
</article-meta>
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