COVID-19: Aspects of genetic susceptibility and congenital defects

RESUMEN Introduccion: la COVID-19 (acronimo del ingles c oronavirus disease 2019 ) es una enfermedad infecciosa de reciente descripcion, causada por el SARS-CoV-2, sin tratamiento efectivo La identificacion de variantes geneticas que intervienen en la respuesta a la COVID-19;asi como la posibilidad de trasmision materno-fetal del SARS-CoV-2 no solo permitiran ampliar los conocimientos sobre su fisiopatologia;sino ademas estratificar los grupos de la poblacion, y segun su riesgo, implementar medidas preventivas y tratamientos personalizados, incluida la prioridad en el uso de vacunas Objetivo: describir aspectos relacionados con la susceptibilidad genetica y defectos congenitos en la COVID-19 Material y Metodos: se realizo una investigacion tipo revision bibliografica;para identificar los documentos que se revisarian se consulto la base bibliografica PubMed/Medline, incluyendo los trabajos del 2019 y 2020 Se incluyo publicaciones recomendadas por expertos, preferiblemente publicados en los ultimos 10 anos;luego de una valoracion cualitativa, se realizo una sintesis Desarrollo: estan descritas mutaciones de los genes: ACE2, ACE1, TMPRSS2, TLR7, asi como haplotipos HLA asociadas a la susceptibilidad genetica a la COVID-19 Variantes de los genes: SLC6A20, LZTFL1, CCR9, FYCO1, CXCR6 y XCR1;asi 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-γ, y TNF-α), pudieran tambien estar relacionadas con un incremento de la susceptibilidad al SARS-CoV-2 Ante la posibilidad de trasmision vertical de la COVID-19 y su posible papel teratogenico, las embarazadas constituyen un grupo de riesgo Conclusion: variantes geneticas humanas son factores de susceptibilidad genetica al virus SARS-CoV-2, que puede ser causa de defectos congenitos 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-γ, and TNF-α) 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