1. Repositório Institucional da UFMG
  2. Publicações Científicas e Culturais
  3. Artigo de Periódico
Please use this identifier to cite or link to this item: http://hdl.handle.net/1843/56416
Full metadata record
DC FieldValueLanguage
dc.creatorVictor Bordapt_BR
dc.creatorAdriana Melopt_BR
dc.creatorMaria Elisabeth Moreirapt_BR
dc.creatorLetícia Guidapt_BR
dc.creatorDaniela P. Cunhapt_BR
dc.creatorLeonardo Gomespt_BR
dc.creatorZilton Vasconcelospt_BR
dc.creatorFabio Fauczpt_BR
dc.creatorAmilcar Tanuript_BR
dc.creatorConstantine Stratakispt_BR
dc.creatorRenato Santana de Aguiarpt_BR
dc.creatorRonaldo da Silva Francisco Juniorpt_BR
dc.creatorCynthia Chester Cardosopt_BR
dc.creatorAna Tereza Ribeiro de Vasconcelospt_BR
dc.creatorJoseane B. Carvalhopt_BR
dc.creatorGuilherme L. Moraispt_BR
dc.creatorÁtila Duque Rossipt_BR
dc.creatorPaula Pezzutopt_BR
dc.creatorGirlene S. Azevedopt_BR
dc.creatorBruno Luiz Fonseca Schamber-Reispt_BR
dc.creatorElyzabeth Avvad Portaript_BR
dc.date.accessioned2023-07-17T18:03:00Z-
dc.date.available2023-07-17T18:03:00Z-
dc.date.issued2021-
dc.citation.volume15pt_BR
dc.citation.issue6pt_BR
dc.citation.spage1pt_BR
dc.citation.epage17pt_BR
dc.identifier.doihttps://doi.org/10.1371/journal.pntd.0009507pt_BR
dc.identifier.issn1935-2735pt_BR
dc.identifier.urihttp://hdl.handle.net/1843/56416-
dc.description.resumoCongenital Zika Syndrome (CZS) is a critical illness with a wide range of severity caused by Zika virus (ZIKV) infection during pregnancy. Life-threatening neurodevelopmental dysfunctions are among the most common phenotypes observed in affected newborns. Risk factors that contribute to susceptibility and response to ZIKV infection may be related to the virus itself, the environment, and maternal genetic background. Nevertheless, the newborn’s genetic contribution to the critical illness is still not elucidated. Here, we aimed to identify possible genetic variants as well as relevant biological pathways that might be associated with CZS phenotypes. For this purpose, we performed a whole-exome sequencing in 40 children born to women with confirmed exposure to ZIKV during pregnancy. We investigated the occurrence of rare harmful single-nucleotide variants (SNVs) possibly associated with inborn errors in genes ontologically related to CZS phenotypes. Moreover, an exome-wide association analysis was also performed using a case-control design (29 CZS cases and 11 controls), for both common and rare variants. Five out of the 29 CZS patients harbored known pathogenic variants likely to contribute to mild to severe manifestations observed. Approximately, 30% of affected individuals carried at least one pathogenic or likely pathogenic SNV in genes candidates to play a role in CZS. Our common variant association analysis detected a suggestive protective effect of the rs2076469 in DISP3 gene (p-value: 1.39 x 10−5). The IL12RB2 gene (p-value: 2.18x10-11) also showed an unusual distribution of nonsynonymous rare SNVs in control samples. Finally, genes harboring harmful variants are involved in processes related to CZS phenotypes such as neurological development and immunity. Therefore, both rare and common variations may be likely to contribute as the underlying genetic cause of CZS susceptibility. The variations and pathways identified in this study may also have implications for the development of therapeutic strategies in the future.pt_BR
dc.languageporpt_BR
dc.publisherUniversidade Federal de Minas Geraispt_BR
dc.publisher.countryBrasilpt_BR
dc.publisher.departmentICB - INSTITUTO DE CIÊNCIAS BIOLOGICASpt_BR
dc.publisher.initialsUFMGpt_BR
dc.relation.ispartofPLOS Neglected Tropical Diseasespt_BR
dc.rightsAcesso Abertopt_BR
dc.subjectZikapt_BR
dc.subjectGeneticpt_BR
dc.subject.otherVírus da Zikapt_BR
dc.titleWhole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndromept_BR
dc.typeArtigo de Periódicopt_BR
dc.url.externahttps://journals.plos.org/plosntds/article?id=10.1371/journal.pntd.0009507pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0003-3209-3961pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0002-8575-544Xpt_BR
dc.identifier.orcidhttps://orcid.org/0000-0002-2034-0294pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0003-3543-1532pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0002-1721-0608pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0002-2193-2224pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0001-7959-9842pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0003-0570-750Xpt_BR
dc.identifier.orcidhttps://orcid.org/0000-0002-4058-5520pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0001-5180-3717pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0003-0565-7047pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0001-6235-8807pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0001-9570-8244pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0002-7640-1463pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0003-2372-0898pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0003-2372-0898pt_BR
Appears in Collections:Artigo de Periódico

Files in This Item:
File Description SizeFormat 
Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome.pdf39.87 MBAdobe PDFView/Open
Show simple item record


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.