Genetic testing and molecular biomarkers · 2017
Association Between Polymorphisms of the Mannose-Binding Lectin and Severity of Periportal Fibrosis in Schistosomiasis, in the Northeast of Brazil.
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da Silva Constantino Taynan, de Lima Elker Lene Santos, de Brito Lidiane Régia Pereira Braga, Silva Jamile Luciana, Coêlho Maria Rosângela Cunha Duarte, Muniz Maria Tereza Cartaxo, Silva Paula Carolina Valença, Domingues Ana Lúcia Coutinho
Аннотация
AIMS: Mannose-binding lectin (MBL) is a protein synthesized by the liver and its immune response is associated with the development of liver fibrosis. We hypothesized that the polymorphisms in the Exon 1 region (52, 54, 57) and promoter regions (-550 H/L, -221 X/Y) of the MBL2 gene were associated with the severity of periportal fibrosis (PPF), and that these polymorphisms affect the MBL serum levels.
MATERIALS AND METHODS: In this cross-sectional study we genotyped these polymorphisms within the MBL2 gene in 229 Brazilian subjects infected with Schistosoma mansoni, with different patterns of PPF.
RESULTS: There was no association between the polymorphisms and haplotypes of the MBL2 gene and the advanced PPF pattern. The MBL levels were higher in individuals with advanced fibrosis. There was risk association among high-expression haplotypes of MBL, and a protection association between the A/O Exon 1 genotype and elevated MBL serum levels.
CONCLUSIONS: Our results suggest that polymorphism of Exon 1 and MBL haplotypes could potentially be used to predict the severity of advanced PPF in the Brazilian population.
MATERIALS AND METHODS: In this cross-sectional study we genotyped these polymorphisms within the MBL2 gene in 229 Brazilian subjects infected with Schistosoma mansoni, with different patterns of PPF.
RESULTS: There was no association between the polymorphisms and haplotypes of the MBL2 gene and the advanced PPF pattern. The MBL levels were higher in individuals with advanced fibrosis. There was risk association among high-expression haplotypes of MBL, and a protection association between the A/O Exon 1 genotype and elevated MBL serum levels.
CONCLUSIONS: Our results suggest that polymorphism of Exon 1 and MBL haplotypes could potentially be used to predict the severity of advanced PPF in the Brazilian population.