<?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>1729-519X</journal-id>
<journal-title><![CDATA[Revista Habanera de Ciencias Médicas]]></journal-title>
<abbrev-journal-title><![CDATA[Rev haban cienc méd]]></abbrev-journal-title>
<issn>1729-519X</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Ciencias Médicas de la Habana]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1729-519X2020000600004</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[COVID-19: aspectos relacionados a la susceptibilidad genética y defectos congénitos]]></article-title>
<article-title xml:lang="en"><![CDATA[COVID-19: Aspects of genetic susceptibility and congenital defects]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Morales Peralta]]></surname>
<given-names><![CDATA[Estela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Alvarez Fornaris]]></surname>
<given-names><![CDATA[Miguel Alfonso]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Ciencias Médicas de La Habana Facultad de Ciencias Médicas &#8220;10 de Octubre&#8221; ]]></institution>
<addr-line><![CDATA[La Habana ]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de Ciencias Médicas de La Habana Facultad de Ciencias Médicas &#8220;Dr. Enrique Cabrera&#8221; ]]></institution>
<addr-line><![CDATA[La Habana ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>10</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>10</month>
<year>2020</year>
</pub-date>
<volume>19</volume>
<numero>5</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1729-519X2020000600004&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1729-519X2020000600004&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1729-519X2020000600004&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción: la COVID-19 (acrónimo del inglés c oronavirus disease 2019 ) es una enfermedad infecciosa de reciente descripción, causada por el SARS-CoV-2, sin tratamiento efectivo. La identificación de variantes genéticas que intervienen en la respuesta a la COVID-19; así como la posibilidad de trasmisión materno-fetal del SARS-CoV-2 no solo permitirán ampliar los conocimientos sobre su fisiopatología; sino además estratificar los grupos de la población, y según su riesgo, implementar medidas preventivas y tratamientos personalizados, incluida la prioridad en el uso de vacunas.  Objetivo: describir aspectos relacionados con la susceptibilidad genética y defectos congénitos en la COVID-19.  Material y Métodos:  se realizó una investigación tipo revisión bibliográfica; para identificar los documentos que se revisarían se consultó la base bibliográfica PubMed/Medline, incluyendo los trabajos del 2019 y 2020. Se incluyó publicaciones recomendadas por expertos, preferiblemente publicados en los últimos 10 años; luego de una valoración cualitativa, se realizó una síntesis.  Desarrollo:  están descritas mutaciones de los genes: ACE2, ACE1, TMPRSS2, TLR7, así como haplotipos HLA asociadas a la susceptibilidad genética a la COVID-19. Variantes de los genes: SLC6A20, LZTFL1, CCR9, FYCO1, CXCR6 y XCR1; así como de los que codifican para el receptor de la Vitamina D y las citoquinas proinflamatorias (como las IL-1, IL-6, IL-12, IFN-&#947;, y TNF-&#945;), pudieran también estar relacionadas con un incremento de la susceptibilidad al SARS-CoV-2. Ante la posibilidad de trasmisión vertical de la COVID-19 y su posible papel teratogénico, las embarazadas constituyen un grupo de riesgo.  Conclusión: variantes genéticas humanas son factores de susceptibilidad genética al virus SARS-CoV-2, que puede ser causa de defectos congénitos.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction:  COVID-19 (acronym for Coronavirus Disease 2019) is a recently described infectious disease caused by SARS-CoV-2, without effective treatment. Identification of genetic variants involved in the response to COVID-19 as well as the possibility of maternal-fetal transmission of SARS-CoV-2 will not only allow us to expand our knowledge of the pathophysiology of COVID-19, but also stratify population groups according to their risks in order to implement preventive measures and personalized treatments, including the priority in the use of vaccines.  Objective:  To describe aspects related to congenital defects and genetic susceptibility to the SARS-CoV-2 virus.  Material and Methods:  A bibliographic review was carried out. Medline and PubMed bibliographic databases were searched. Studies published between 2019 and 2020 were included as well the ones recommended by experts, preferably published within the last 10 years. After qualitative evaluation, synthesis was made.  Development:  Mutations in ACE2, ACE1, TMPRSS2, TLR7 genes, as well as HLA haplotypes associated with genetic susceptibility to COVID-19 are described. Variants in the genes SLC6A20, LZTFL1, CCR9, FYCO1, CXCR6, XCR1 and in those codifying Vitamin D receptor and proinflammatory cytokines (IL-1, IL-6, IL-12, IFN-&#947;, and TNF-&#945;) could be related to an increased susceptibility to SARS-CoV-2. Due to the risk of vertical transmission of COVID-19 and its possible teratogenic effect, pregnant women are included in the risk group.  Conclusion:  Human genetic variants are factors of genetic susceptibility to the SARS-CoV-2 virus which may cause congenital defects.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[COVID-19]]></kwd>
<kwd lng="es"><![CDATA[predisposición genética]]></kwd>
<kwd lng="es"><![CDATA[susceptibilidad genética]]></kwd>
<kwd lng="es"><![CDATA[variantes genéticas humanas]]></kwd>
<kwd lng="es"><![CDATA[relación materno-fetal y anomalías congénitas]]></kwd>
<kwd lng="en"><![CDATA[COVID-19]]></kwd>
<kwd lng="en"><![CDATA[genetic predisposition]]></kwd>
<kwd lng="en"><![CDATA[genetic susceptibility]]></kwd>
<kwd lng="en"><![CDATA[human genetic variants]]></kwd>
<kwd lng="en"><![CDATA[maternal-fetal relations and congenital abnormalities]]></kwd>
</kwd-group>
</article-meta>
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