TGFBR3 Polymorphisms (rs1805110 and rs7526590) Are Associated with Laboratory Biomarkers and Clinical Manifestations in Sickle Cell Anemia
| Autor: | Luciana Magalhães Fiuza, Valma Maria Lopes Nascimento, Milena Magalhães Aleluia, Marilda Souza Goncalves, Rayra Pereira Santiago, Caroline Conceição da Guarda, Larissa Carneiro Rocha, Suellen Pinheiro Carvalho, Rodrigo Mota de Oliveira, Cleverson Alves Fonseca, Sètondji Cocou Modeste Alexandre Yahouédéhou, Camylla Vilas Boas Figueiredo |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
Medicine (General) Article Subject Anemia Clinical Biochemistry Hematocrit 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine R5-920 Lactate dehydrogenase Internal medicine Genetics medicine Molecular Biology medicine.diagnostic_test business.industry Biochemistry (medical) Red blood cell distribution width General Medicine medicine.disease Hemolysis Sickle cell anemia Minor allele frequency Endocrinology chemistry 030220 oncology & carcinogenesis Alkaline phosphatase business 030215 immunology Research Article |
| Zdroj: | Disease Markers, Vol 2020 (2020) Disease Markers |
| ISSN: | 1875-8630 0278-0240 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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