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Please use this identifier to cite or link to this item: http://hdl.handle.net/1843/56394
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dc.creatorÁ. D. Rossipt_BR
dc.creatorRenato Santana de Aguiarpt_BR
dc.creatorCynthia Chester Cardosopt_BR
dc.creatorConstantine A. Stratakispt_BR
dc.creatorFabio Fauczpt_BR
dc.creatorA. Melopt_BR
dc.creatorP. Pezzutopt_BR
dc.creatorG. S. de Azevedopt_BR
dc.creatorB. L. F. Schamber Reispt_BR
dc.creatorJ. S. Tavarespt_BR
dc.creatorJ. J. Mattapallilpt_BR
dc.creatorAmilcar Tanuript_BR
dc.date.accessioned2023-07-17T17:32:49Z-
dc.date.available2023-07-17T17:32:49Z-
dc.date.issued2018-
dc.citation.volume13pt_BR
dc.citation.spage123pt_BR
dc.identifier.doihttps://doi.org/10.1111/joim.12829pt_BR
dc.identifier.issn0954-6820pt_BR
dc.identifier.urihttp://hdl.handle.net/1843/56394-
dc.description.resumoBackground Vertical transmission of Zika virus (ZIKV) is associated with congenital malformations but the mechanism of pathogenesis remains unclear. Although host genetics appear to play a role, no genetic association study has yet been performed to evaluate this question. In order to investigate if maternal genetic variation is associated with Congenital Zika Syndrome (CZS), we conducted a case–control study in a cohort of Brazilian women infected with ZIKV during pregnancy. Methods A total of 100 women who reported symptoms of zika during pregnancy were enrolled and tested for ZIKV. Among 52 women positive for ZIKV infection, 28 were classified as cases and 24 as controls based on the presence or absence of CZS in their infants. Variations in the coding region of 205 candidate genes involved in cAMP signaling or immune response were assessed by high throughput sequencing and tested for association with development of CZS. Results From the 817 single nucleotide variations (SNVs) included in association analyses, 22 SNVs in 17 genes were associated with CZS under an additive model (alpha = 0.05). Variations c.319T>C (rs11676272) and c.1297G>A, located at ADCY3 and ADCY7 genes showed the most prominent effect. The association of ADCY3 and ADCY7 genes was confirmed using a Sequence Kernel Association Test to assess the joint effect of common and rare variations, and results were statistically significant after adjustment for multiple comparisons (P < 0.002). Conclusion These results suggest that maternal ADCY genes contribute to ZIKV pathogenicity and influence the outcome of CZS, being promising candidates for further replication studies and functional analysis.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.ispartofJournal of Internal Medicinept_BR
dc.rightsAcesso Restritopt_BR
dc.subjectCongenital malformationspt_BR
dc.subjectGene polymorphismpt_BR
dc.subjectInfectious diseasept_BR
dc.subjectVirologypt_BR
dc.subjectZikapt_BR
dc.subject.otherDoenças congenitaspt_BR
dc.subject.otherDoenças infecciosaspt_BR
dc.subject.otherVirologiapt_BR
dc.titleVariations in maternal adenylate cyclase genes are associated with congenital Zika syndrome in a cohort from Northeast, Brazilpt_BR
dc.typeArtigo de Periódicopt_BR
dc.url.externahttps://onlinelibrary.wiley.com/doi/10.1111/joim.12829pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0001-5180-3717pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0002-4058-5520pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0001-7959-9842pt_BR
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