Combined genotypes of the MBL2 gene related to low mannose-binding lectin levels are associated with vaso-occlusive events in children with sickle cell anemia.

Autor: Medeiros FS; Instituto de Ciências Biológicas/Faculdade de Ciências Médicas, Universidade de Pernambuco, Recife, PE, Brazil., Mendonça TF; Programa de Pós-graduação em Biotecnologia (RENORBIO), Universidade Federal Rural de Pernambuco, Recife, PE, Brazil., Lopes KAM; Instituto de Ciências Biológicas/Faculdade de Ciências Médicas, Universidade de Pernambuco, Recife, PE, Brazil., França LMC; Instituto de Ciências Biológicas/Faculdade de Ciências Médicas, Universidade de Pernambuco, Recife, PE, Brazil., Silva AS; Instituto de Ciências Biológicas/Faculdade de Ciências Médicas, Universidade de Pernambuco, Recife, PE, Brazil., Vasconcelos LRS; Centro de Pesquisa Aggeu Magalhães (FIOCRUZ), Recife, PE, Brazil., Oliveira MCVC; Hospital de Hematologia e Hemoterapia de Pernambuco (HEMOPE), Recife, PE, Brazil., Anjos ACM; Hospital de Hematologia e Hemoterapia de Pernambuco (HEMOPE), Recife, PE, Brazil., Hatzlhofer BLD; Universidade Federal de Pernambuco, Recife, PE, Brazil., Bezerra MAC; Universidade Federal de Pernambuco, Recife, PE, Brazil., Araújo AS; Hospital de Hematologia e Hemoterapia de Pernambuco (HEMOPE), Recife, PE, Brazil., Moura P; Instituto de Ciências Biológicas/Faculdade de Ciências Médicas, Universidade de Pernambuco, Recife, PE, Brazil., Cavalcanti MSM; Instituto de Ciências Biológicas/Faculdade de Ciências Médicas, Universidade de Pernambuco, Recife, PE, Brazil.
Jazyk: angličtina
Zdroj: Genetics and molecular biology [Genet Mol Biol] 2017 Jul-Sep; Vol. 40 (3), pp. 600-603. Date of Electronic Publication: 2017 Aug 21.
DOI: 10.1590/1678-4685-GMB-2016-0161
Abstrakt: 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.
Databáze: MEDLINE