Interleukin-1 beta and interleukin-6 gene polymorphisms are associated with manifestations of sickle cell anemia

Autor(es)

Vicari, Perla ^[1] ; Adegoke, Samuel A. ^[1] ; Mazzotti, Diego Robles ^[2] ; Cancado, Rodolfo Delfini ^[3] ; Eiko Nogutti, Maria Aparecida ^[1] ; Figueiredo, Maria Stella ^[1]

Afiliação do(s) autor(es)

^[1] Escola Paulista Med UNIFESP, Disciplina Hematol & Hemoterapia, BR-04037002 Sao Paulo, SP - Brazil

^[2] Univ Fed Sao Paulo, Dept Psicobiol, Sao Paulo - Brazil

^[3] Fac Ciencias Med Santa Casa Sao Paulo, Disciplina Hematol & Oncol, Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: BLOOD CELLS MOLECULES AND DISEASES; v. 54, n. 3, p. 244-249, MAR 2015.
• Citações Web of Science: 12

Resumo

Sickle cell anemia (SCA), a disorder characterized by both acute and chronic inflammation, exhibits substantial phenotypic variability. Interleukin-1 beta (IL-1 beta) and IL-6 are important in acute and chronic diseases, and their single nucleotide polymorphisms (SNPs) have been considered as predictors of prognosis in several inflammatory conditions. This study aims at exploring possible association of IL-1 beta and IL-6 SNPs as potential genetic modifiers and or predictors of SCA clinical and laboratory phenotypes. This cross-sectional study involved 107 SCA patients and 110 age, sex and ethnicity-matched healthy individuals. The SNPs were identified by PCR-RFLP for IL-1 beta (-511C>T and + 3954C>T) and IL-6 (-597G>A and -174G>C) genes. Associations between these SNPs and the clinical and laboratory profiles of patients with SCA were then determined. Allelic and genotypic frequencies of IL-1 beta, and IL-6 SNPs between patients with SCA and controls were similar and followed HWE. IL-1 beta +3954C>T SNP was associated with increased risk of osteonecrosis, elevated pulmonary arterial pressure and lower absolute reticulocyte count, while IL-6 - 597G > A was associated with higher likelihood of retinopathy and leg ulcer. These data indicate that IL-1 beta and IL-6 gene SNPs are associated with SCA complications among Brazilian patients and may act as genetic predictors of SCA clinical heterogeneity. (C) 2014 Elsevier Inc. All rights reserved. (AU)

• Processo FAPESP: 04/04498-4 - Avaliacao de citocinas inflamatorias e sua importancia na hipertensao pulmonar em pacientes portadores de sindromes falciformes.
• Beneficiário: Maria Stella Figueiredo
• Modalidade de apoio: Auxílio à Pesquisa - Regular