<?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>0120-4157</journal-id>
<journal-title><![CDATA[Biomédica]]></journal-title>
<abbrev-journal-title><![CDATA[Biomed.]]></abbrev-journal-title>
<issn>0120-4157</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Salud]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-41572020000200309</article-id>
<article-id pub-id-type="doi">10.7705/biomedica.4771</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Expresión de alfa sinucleína en sangre y su relación con el estreñimiento crónico en población residente en Bogotá, D.C., con problemas de consumo de alcohol]]></article-title>
<article-title xml:lang="en"><![CDATA[Alpha sinuclein expression in blood and its relationship with chronic constipation in a population from Bogotá, D.C., with problems of alcohol consumption]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martínez-Rodríguez]]></surname>
<given-names><![CDATA[Tania Yadira]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rey-Buitrago]]></surname>
<given-names><![CDATA[Mauricio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Facultad de Medicina, Universidad Nacional de Colombia Maestría en Fisiología, Departamento de Ciencias Fisiológicas ]]></institution>
<addr-line><![CDATA[Bogotá D.C]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Facultad de Medicina, Universidad Nacional de Colombia Maestria en Genetica Humana, Departamento de Morfologia ]]></institution>
<addr-line><![CDATA[Bogota D.C]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2020</year>
</pub-date>
<volume>40</volume>
<numero>2</numero>
<fpage>309</fpage>
<lpage>321</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-41572020000200309&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-41572020000200309&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-41572020000200309&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción. El consumo excesivo de alcohol resulta en neuroadaptación, neurodegeneración y expresión diferencial de numerosos genes.  Objetivo. Determinar la relación entre la expresión del gen de la alfa sinucleína (SNCA) en sangre, las variantes de nucleótido único (Single Nucleotide Variant, SNV) en su región promotora y el estreñimiento crónico en personas con problemas de consumo de alcohol.  Materiales y métodos. La muestra estuvo conformada por 35 controles y 27 casos, seleccionados según el puntaje obtenido con la herramienta AUDIT. En el diagnóstico del estreñimiento se aplicaron los criterios de Roma IV. La extracción de ácidos nucleicos se hizo a partir de sangre periférica y se evaluó la expresión del gen mediante qPCR, la cuantificación proteica por ELISA y la presencia de SNV en la región promotora del gen por la secuenciación de Sanger.  Resultados. Se observó sobreexpresión génica relativa de ARNm del gen SNCA en el grupo de casos sin relación con el estreñimiento crónico. Se evidenció un riesgo 4,8 veces mayor de presentar estreñimiento en el grupo de casos. Se encontraron nueve variantes de nucleótido simple en un segmento de la región promotora del gen rica en secuencias reguladoras CpG, con frecuencia similar entre los grupos, y se detectó una variante en la posición -2171 que no se encuentra reportada en GenBank para variantes clínicas y cuyo genotipo A/T se relacionó con el incremento de la expresión del ARNm del SNCA.  Conclusión. En personas con problemas de consumo de alcohol se evidenció la sobreexpresión del ARNm de alfa sinucleína, lo cual no se relacionó con el diagnóstico de estreñimiento crónico.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction: Excessive alcohol consumption results in neuroadaptation, neurodegeneration, and differential expression of numerous genes.  Objective: To determine the relationship between the expression of the alpha synuclein gene (SNCA) in blood, single nucleotide variant (SNV) in its promoter region, and chronic constipation in people with problems of alcohol consumption.  Materials and methods: The sample consisted of 35 controls and 27 cases selected according to the score obtained with the AUDIT tool. For the diagnosis of constipation, the Rome IV criteria were applied. Nucleic acid extraction was performed from peripheral blood and the expression of the gene was evaluated by qPCR, protein quantification by ELISA, and the presence of SNV in the promoter region of the gene by Sanger sequencing.  Results: We observed a relative gene overexpression of SNCA mRNA in the case group, which was not related to the diagnosis of chronic constipation. There was 4.8 times greater risk of presenting constipation in the group of cases. Besides, nine single nucleotide variants were found in a segment of the promoter region of the gene rich in CpG regulatory sequences with similar frequency between the groups while a variant was identified in position -2171, which is not reported in GenBank for variants and whose genotype A/T was associated with increased expression of SNCA mRNA.  Conclusion: We evidenced an overexpression of alpha synuclein mRNA in people with problems of alcohol consumption that was not related to the diagnosis of chronic constipation.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[alcoholismo]]></kwd>
<kwd lng="es"><![CDATA[estreñimiento]]></kwd>
<kwd lng="es"><![CDATA[alfa-sinucleína]]></kwd>
<kwd lng="es"><![CDATA[expresión génica]]></kwd>
<kwd lng="es"><![CDATA[polimorfismo genético]]></kwd>
<kwd lng="es"><![CDATA[inflamación]]></kwd>
<kwd lng="en"><![CDATA[Alcoholism]]></kwd>
<kwd lng="en"><![CDATA[constipation]]></kwd>
<kwd lng="en"><![CDATA[alpha synuclein]]></kwd>
<kwd lng="en"><![CDATA[gene expression]]></kwd>
<kwd lng="en"><![CDATA[genetic polymorphism]]></kwd>
<kwd lng="en"><![CDATA[inflammation]]></kwd>
</kwd-group>
</article-meta>
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