| Author | Santiago, Rayra Pereira | |
| Author | Figueiredo, Camylla Vilas Boas | |
| Author | Fiuza, Luciana Magalhães | |
| Author | Yahouédéhou, Sétondji Cocou Modeste Alexandre | |
| Author | Oliveira, Rodrigo Mota | |
| Author | Aleluia, Milena Magalhães | |
| Author | Carvalho, Suellen Pinheiro | |
| Author | Fonseca, Cleverson Alves | |
| Author | Nascimento, Valma Maria Lopes | |
| Author | Rocha, Larissa Carneiro | |
| Author | Guarda, Caroline Conceição | |
| Author | Gonçalves, Marilda de Souza | |
| Access date | 2021-01-22T13:20:57Z | |
| Available date | 2021-01-22T13:20:57Z | |
| Document date | 2020 | |
| Citation | SANTIAGO, Rayra Pereira et al. TGFBR3 Polymorphisms (rs1805110 and rs7526590) Are Associated with Laboratory Biomarkers and Clinical Manifestations in Sickle Cell Anemia. Disease Markers, p. 1-9, 2020. | pt_BR |
| ISSN | 0278-0240 | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/45782 | |
| Sponsorship | Coordenação de
Aperfeiçoamento de Pessoal de Nível Superior - Brasil
(CAPES) - Finance Code 001 (RPS, SCMAY, and SPC).
The study was also supported by the Conselho Nacional
de Desenvolvimento Científico e Tecnológico (CNPq
470959/2014-2 and 405595/2016-6) through a grant to
MSG. We would like to thank all the SCA individuals who
agreed to participate in our research protocol. We also thank
the staff of the Bahia State Hematology and Hemotherapy
Foundation (HEMOBA) for their assistance with sample
collection and for caring for SCA individuals. | pt_BR |
| Language | eng | pt_BR |
| Publisher | Hindawi | pt_BR |
| Rights | open access | pt_BR |
| Subject in Portuguese | Polimorfismos | pt_BR |
| Subject in Portuguese | Anemia falciforme | pt_BR |
| Subject in Portuguese | Biomarcadores de laboratório | pt_BR |
| Title | TGFBR3 Polymorphisms (rs1805110 and rs7526590) Are Associated with Laboratory Biomarkers and Clinical Manifestations in Sickle Cell Anemia | pt_BR |
| Type | Article | pt_BR |
| DOI | 10.1155/2020/8867986 | |
| Abstract | Individuals with sickle cell anemia (SCA) present chronic anemia, hemolysis, an exacerbated inflammatory response, and heterogeneous clinical complications, which may be modulated by the transforming growth factor beta (TGF-β) pathway. Thus, we aimed to investigate polymorphisms (rs1805110 and rs7526590) of the transforming growth factor beta receptor III gene (TGFBR3) with regard to laboratory biomarkers and clinical manifestations in individuals with SCA. Hematological, biochemical, immunological, and genetic analyses were carried out, as well as serum endothelin-1 measurements. The minor allele (A) of the TGFBR3 rs1805110 polymorphism was associated with increased hemoglobin, hematocrit, reticulocyte counts, total cholesterol, low-density lipoprotein, uric acid, and endothelin levels, as well as decreased platelet distribution width (PDW) and the occurrence of bone alterations. The minor allele (T) of TGFBR3 rs7526590 was associated with increased red cell distribution width, PDW, alkaline phosphatase, aspartate aminotransferase, total and indirect bilirubin, and lactate dehydrogenase levels, as well as lower ferritin levels and the occurrence of leg ulcers. Our data suggest that the minor allele (A) of TGFBR3 rs1805110 is associated with inflammation and bone alterations, while the minor allele (T) of TGFBR3 rs7526590 is related to hemolysis and the occurrence of leg ulcers. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Bahia, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Bahia, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Bahia, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Bahia, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Bahia, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil. | pt_BR |
| Affilliation | Universidade Estadual de Santa Cruz. Departamento de Ciências Biológicas. Ilhéus, BA, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Bahia, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil. | pt_BR |
| Affilliation | Universidade Federal da Bahia. Salvador, BA, Brasil. | pt_BR |
| Affilliation | Fundação de Hematologia e Hemoterapia do Estado da Bahia. Salvador, BA, Brasil. | pt_BR |
| Affilliation | Fundação de Hematologia e Hemoterapia do Estado da Bahia. Salvador, BA, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Bahia, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Bahia, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil. | pt_BR |
| Subject | Polymorphisms | pt_BR |
| Subject | Anemia Sickle Cell | pt_BR |
| Subject | Biomarkers | pt_BR |
