<?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>1657-9534</journal-id>
<journal-title><![CDATA[Colombia Médica]]></journal-title>
<abbrev-journal-title><![CDATA[Colomb. Med.]]></abbrev-journal-title>
<issn>1657-9534</issn>
<publisher>
<publisher-name><![CDATA[Universidad del Valle]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1657-95342022000200007</article-id>
<article-id pub-id-type="doi">10.25100/cm.v53i2.5107</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Preliminary identification of pathogenic variants in an Afro-Colombian Raizal family with risk factors for glaucoma]]></article-title>
<article-title xml:lang="es"><![CDATA[Identificación preliminar de variantes patógenas en una familia raizal afrocolombiana con factores de riesgo para glaucoma]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Castillo-Plata]]></surname>
<given-names><![CDATA[Harry]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rivera-Franco]]></surname>
<given-names><![CDATA[Nelson]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Valencia-Peña]]></surname>
<given-names><![CDATA[Claudia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Saldarriaga-Gil]]></surname>
<given-names><![CDATA[Wilmar]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Newball]]></surname>
<given-names><![CDATA[Lyle]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Castillo]]></surname>
<given-names><![CDATA[Andres]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad del Valle Escuela de Ciencias Básicas Maestría en Ciencias Básicas Medicas]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad del Valle Facultad de Ciencias Naturales y Exactas Doctorado Biología]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad del Valle Facultad de Ciencias Naturales y Exactas Departamento de Biología]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad del Valle Escuela de Ciencias Básicas Doctorado en Ciencias Básicas Medicas]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Universidad del Valle Escuela de Ciencias Básicas Departamento de Morfología]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Clínica Lynd Newball  ]]></institution>
<addr-line><![CDATA[Archipiélago de San Andrés, Providencia y Santa Catalina ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af7">
<institution><![CDATA[,Johns Hopkins University School of Medicine Department of Neurology ]]></institution>
<addr-line><![CDATA[Baltimore ]]></addr-line>
<country>USA</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2022</year>
</pub-date>
<volume>53</volume>
<numero>2</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S1657-95342022000200007&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S1657-95342022000200007&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S1657-95342022000200007&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Objective:  To identify pathogenic variants in an Afro-Colombian Raizal family with risk factors for glaucoma.  Methods:  In the present study, whole exome sequencing was performed on seven members of a Raizal family from the archipelago of San Andrés, Providencia, and Santa Catalina, in the Caribbean region of Colombia. Four of them had been diagnosed with glaucoma. In addition, two healthy volunteers from the island were included.  Results:  Of the 198 single nucleotide variants associated with glaucoma, previously reported by the DisGeNET database, four were identified in members of the Raizal family: rs11938093, rs7336216, rs3817672, and rs983034. Furthermore, single nucleotide variant rs983034 was identified in the Wnt ligand secretion mediator gene in all members of the family but not in healthy volunteers. Notably, WLS dysfunctions have been linked to pathology in the trabecular meshwork of the eye. Trabecular meshwork is an important regulator of the outflow of aqueous humor that maintains intraocular pressure (intraocular pressure) at normal levels. Damage to trabecular meshwork is associated with ocular hypertension, which leads to glaucoma progression. In relation to the other single nucleotide variants that were identified, their presence was confirmed in some members of the Raizal family. However, it is still unclear the pathophysiological cause that associates these single nucleotide variants with glaucoma.  Conclusions:  It was possible to identify four non-synonymous single nucleotide variants that predict significant damage to the structure and function of genes associated with glaucoma pathology in an Afro-Colombian.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Objetivo: Identificar las variantes patogénicas en una familia raizal afrocolombiana con factores de riesgo para el glaucoma.  Métodos: En el presente estudio, se realizó una secuenciación de exoma completo en siete miembros de una familia Raizal del archipiélago de San Andrés, Providencia y Santa Catalina del Caribe colombiano. La mitad de ellos habían sido diagnosticados con glaucoma. Además, se incluyeron dos voluntarios sanos de la isla.  Resultados: De las 198 variantes de un solo nucleótido (SNV) asociadas con el glaucoma, previamente informadas por la base de datos DisGeNET, se identificaron cuatro en los miembros de la familia Raizal: rs11938093, rs7336216, rs3817672 y rs983034. Ademas, en todos los miembros de la familia, pero no en voluntarios sanos, se identificó SNV rs983034 en el gen mediador de secreción de ligando Wnt (WLS). Notablemente, las disfunciones WLS se han relacionado con patologías en la red trabecular (TM) del ojo. TM es un regulador importante del flujo de salida del humor acuoso que mantiene la presión intraocular (presión intraocular) en niveles normales. El daño a la TM se asocia con hipertensión ocular que conduce a la progresión del glaucoma. En relación con los demás SNV identificados, se constató su presencia en algunos miembros de la familia Raizal. Sin embargo, aún no está clara la causa fisiopatológica que asocia estas SNV con el glaucoma.  Conclusiones: Fue posible identificar cuatro SNVs no sinónimos con predicción de daño significativo en la estructura y función de genes asociados a patología de glaucoma en un afrocolombiano.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Glaucoma]]></kwd>
<kwd lng="en"><![CDATA[African Continental Descent Group]]></kwd>
<kwd lng="en"><![CDATA[Whole Exome Sequencing]]></kwd>
<kwd lng="en"><![CDATA[Intraocular Pressure]]></kwd>
<kwd lng="en"><![CDATA[Trabecular Mesh]]></kwd>
<kwd lng="en"><![CDATA[Ocular Hypertension]]></kwd>
<kwd lng="en"><![CDATA[Blindness]]></kwd>
<kwd lng="es"><![CDATA[Glaucoma]]></kwd>
<kwd lng="es"><![CDATA[Grupo de ascendencia continental africana]]></kwd>
<kwd lng="es"><![CDATA[Secuenciación del exoma completo]]></kwd>
<kwd lng="es"><![CDATA[Presión Intraocular]]></kwd>
<kwd lng="es"><![CDATA[Malla Trabecular]]></kwd>
<kwd lng="es"><![CDATA[Hipertensión Ocular]]></kwd>
<kwd lng="es"><![CDATA[Ceguera]]></kwd>
</kwd-group>
</article-meta>
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