|
|
|
|
|
| Medeiros,Fernanda Silva; Mendonça,Taciana Furtado de; Lopes,Katiuscia Araújo de Miranda; França,Laís Medeiros da Câmara; Silva,Andreia Soares da; Vasconcelos,Luydson Richardson Silva; Oliveira,Maria do Carmo Valgueiro Costa de; Anjos,Ana Cláudia Mendonça dos; Hatzlhofer,Betânia Lucena Domingues; Bezerra,Marcos André Cavalcanti; Araújo,Aderson da Silva; Moura,Patrícia; Cavalcanti,Maria do Socorro de Mendonça. |
| Abstract Sickle cell anemia (SCA) presents heterogenous clinical manifestations that cannot be explained solely by alterations to hemoglobin (Hb); other components such as endothelial adhesion, thrombosis and inflammation may be involved. The mannose-binding lectin (MBL) has an important role in innate immunity and inflammatory diseases. In this report, we describe an association between MBL2 polymorphism related to low production of serum MBL and the frequency of vasoocclusive events (FVOE) in children ≤ 5 years old with SCA (p = 0.0229; OR 5.55; CI 1.11-27.66). Further studies are needed to explore the role of low MBL2 in the pathophysiology of vasoocclusive events in SCA. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: MBL2; Polymorphism; Sickle cell anemia; Vaso-occlusive events. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000400600 |
| |
|
|
| Santos,Luana Oliveira dos; Bispo,Adriana Valéria Sales; Barros,Juliana Vieira de; Laranjeira,Raysa Samanta Moraes; Pinto,Rafaella do Nascimento; Silva,Jaqueline de Azevêdo; Duarte,Andréa de Rezende; Araújo,Jacqueline; Sandrin-Garcia,Paula; Crovella,Sergio; Bezerra,Marcos André Cavalcanti; Belmont,Taciana Furtado de Mendonça; Cavalcanti,Maria do Socorro; Santos,Neide. |
| Abstract Turner syndrome (TS) is characterized by a set of clinical conditions, including autoimmune/inflammatory diseases and infectious conditions, that can compromise a patient’s quality of life. Here we assessed polymorphisms in CTLA-4 +49A/G (rs231775), PTPN22 +1858G/A (rs2476601), and MBL2 -550 (H/L) (rs11003125), -221(X/Y) (rs7096206) and exon 1 (A/O) in women from northeastern Brazil to determine whether polymorphisms within these key immune response genes confer differential susceptibility to clinical conditions in TS. A case-control genetic association study was performed, including 86 female TS patients and 179 healthy women. An association was observed for the A/G genotype of CTLA-4 +49A/G in TS patients (p=0.043, odds ratio [OR]=0.54). In... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CTLA-4 gene; Immune genes; Obesity; Polymorphism; Turner syndrome. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500727 |
| |
|
|
|
