<?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>1561-2953</journal-id>
<journal-title><![CDATA[Revista Cubana de Endocrinología]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Cubana Endocrinol]]></abbrev-journal-title>
<issn>1561-2953</issn>
<publisher>
<publisher-name><![CDATA[Editorial Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1561-29532022000200001</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Avances en la genética del síndrome de ovario poliquístico]]></article-title>
<article-title xml:lang="en"><![CDATA[Advances in the genetics of polycystic ovary syndrome]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ovies Carballo]]></surname>
<given-names><![CDATA[Gisel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Monteagudo Peña]]></surname>
<given-names><![CDATA[Gilda]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gómez Alzugaray]]></surname>
<given-names><![CDATA[Manuel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto Nacional de Endocrinología (INEN)  ]]></institution>
<addr-line><![CDATA[ La Habana]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2022</year>
</pub-date>
<volume>33</volume>
<numero>2</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1561-29532022000200001&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1561-29532022000200001&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1561-29532022000200001&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción:  Los primeros estudios realizados en familiares de mujeres con síndrome de ovario poliquístico demostraron un patrón de agregación familiar y por tanto, la posibilidad de un componente genético en su etiopatogenia. Desde entonces, mucho se ha investigado al respecto.  Objetivo:  Realizar una actualización en las evidencias según la literatura de las bases genéticas del síndrome de ovario poliquístico.  Métodos:  Se realizó una revisión bibliográfica de los últimos 10 años sobre aspectos de genética en el síndrome de ovario poliquístico en las bases Pubmed, Google Académico, EMBASE y MEDLINE.  Conclusiones:  Se demostró que en este periodo se ha avanzado en el esclarecimiento y participación de múltiples genes y loci en la patogenia del síndrome. Existe una asociación importante en diferentes poblaciones y etnias del gen DENND1A y TADHA, los cuales se localizan en los cromosomas 9 y 2, respectivamente. Además, se han realizado estudios de asociación del genoma completo (GWAS) que han identificado otros genes en cromosomas como 9q22.32, 11q22.1, 12q13.2, 19p13.3, 16 q12.1, 20q13.2, 12q14.3 (C9orf3, YAP1, RAB5B, INSR, TOX3, SUMO1P1 y HMGA2). Esta revisión permite una actualización del tema y ampliar el conocimiento sobre aspectos relacionados con el origen genético del SOP, así como concluir que el SOP tiene un origen poligénico y es de las denominadas enfermedades complejas.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction:  Early studies in relatives of women with polycystic ovary syndrome demonstrated a pattern of familial aggregation and thus the possibility of a genetic component in its etiopathogenesis. Since then, much research has been done on this subject.  Objective: To update the evidence according to the literature on the genetic basis of polycystic ovary syndrome.  Methods:  A literature review of the last 10 years on genetic aspects of polycystic ovary syndrome was performed in Pubmed, Google Scholar, EMBASE and MEDLINE databases.  Conclusions:  It was shown that in this period progress has been made in the elucidation and involvement of multiple genes and loci in the pathogenesis of the syndrome. There is a significant association in different populations and ethnicities of the DENND1A and TADHA gene, which are located on chromosomes 9 and 2, respectively. In addition, genome-wide association studies (GWAS) have been performed and have identified other genes on chromosomes such as 9q22.32, 11q22.1, 12q13.2, 19p13.3, 16 q12.1, 20q13.2, 12q14.3 (C9orf3, YAP1, RAB5B, INSR, TOX3, SUMO1P1 and HMGA2). This review allows an update of the subject and to expand the knowledge on aspects related to the genetic origin of PCOS, as well as to conclude that PCOS has a polygenic origin and is one of the so-called complex diseases.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[síndrome de ovario poliquístico]]></kwd>
<kwd lng="es"><![CDATA[genética]]></kwd>
<kwd lng="es"><![CDATA[genes]]></kwd>
<kwd lng="es"><![CDATA[loci]]></kwd>
<kwd lng="es"><![CDATA[polimorfismos]]></kwd>
<kwd lng="en"><![CDATA[polycystic ovary syndrome]]></kwd>
<kwd lng="en"><![CDATA[genetics]]></kwd>
<kwd lng="en"><![CDATA[genes]]></kwd>
<kwd lng="en"><![CDATA[loci]]></kwd>
<kwd lng="en"><![CDATA[polymorphisms]]></kwd>
</kwd-group>
</article-meta>
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