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New findings in eNOS gene and thalidomide embryopathy suggest pre-transcriptional effect variants as susceptibility factors
dc.contributor.author | Kowalski, Thayne Woycinck | pt_BR |
dc.contributor.author | Fraga, Lucas Rosa | pt_BR |
dc.contributor.author | Rodrigues, Luciana Tovo | pt_BR |
dc.contributor.author | Sanseverino, Maria Teresa Vieira | pt_BR |
dc.contributor.author | Hutz, Mara Helena | pt_BR |
dc.contributor.author | Faccini, Lavinia Schuler | pt_BR |
dc.contributor.author | Vianna, Fernanda Sales Luiz | pt_BR |
dc.date.accessioned | 2021-08-11T04:46:44Z | pt_BR |
dc.date.issued | 2016 | pt_BR |
dc.identifier.issn | 2045-2322 | pt_BR |
dc.identifier.uri | http://hdl.handle.net/10183/225508 | pt_BR |
dc.description.abstract | Antiangiogenic properties of thalidomide have created an interest in the use of the drug in treatment of cancer. However, thalidomide is responsible for thalidomide embryopathy (TE). A lack of knowledge regarding the mechanisms of thalidomide teratogenesis acts as a barrier in the aim to synthesize a safer analogue of thalidomide. Recently, our group detected a higher frequency of alleles that impair the pro-angiogenic mechanisms of endothelial nitric oxide synthase (eNOS), coded by the NOS3 gene. In this study we evaluated variable number tandem repeats (VNTR) functional polymorphism in intron 4 of NOS3 in individuals with TE (38) and Brazilians without congenital anomalies (136). Haplotypes were estimated for this VNTR with previously analyzed polymorphisms, rs2070744 (−786C>T) and rs1799983 (894T>G), in promoter region and exon 7, respectively. Haplotypic distribution was different between the groups (p=0.007). Alleles −786C (rs2070744) and 4b (VNTR), associated with decreased NOS3 expression, presented in higher frequency in TE individuals (p=0.018; OR=2.57; IC=1.2–5.8). This association was not identified with polymorphism 894T>G (p=0.079), which influences eNOS enzymatic activity. These results suggest variants in NOS3, with pre-transcriptional effects as susceptibility factors, influencing the risk TE development. This finding generates insight for a new approach to research that pursues a safer analogue. | en |
dc.format.mimetype | application/pdf | pt_BR |
dc.language.iso | eng | pt_BR |
dc.relation.ispartof | Scientific reports. London. Vol. 6, article 23404, p. 1-6 | pt_BR |
dc.rights | Open Access | en |
dc.subject | Talidomida | pt_BR |
dc.subject | Embriopatias | pt_BR |
dc.title | New findings in eNOS gene and thalidomide embryopathy suggest pre-transcriptional effect variants as susceptibility factors | pt_BR |
dc.type | Artigo de periódico | pt_BR |
dc.identifier.nrb | 001021279 | pt_BR |
dc.type.origin | Estrangeiro | pt_BR |
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