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
1 Centro Acadêmico de Vitória, Universidade Federal de Pernambuco (UFPE) , Vitória de Santo Antão, Pernambuco, Brazil .
2 Laboratório de Biologia Molecular, Centro de Oncohematologia Pediátrica, Hospital Universitário Oswaldo Cruz , Universidade de Pernambuco, Recife, Pernambuco, Brazil .
Genet Test Mol Biomarkers. 2017 Sep;21(9):571-576. doi: 10.1089/gtmb.2017.0051. Epub 2017 Aug 7.
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.
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.
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.
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.
甘露糖结合凝集素（MBL）是一种由肝脏合成的蛋白质，其免疫反应与肝纤维化的发展相关。我们推测，MBL2基因外显子1区域（52、54、57）和启动子区域（-550 H/L、-221 X/Y）的多态性与门周纤维化（PPF）的严重程度相关，且这些多态性会影响MBL血清水平。
在这项横断面研究中，我们对229名感染曼氏血吸虫且具有不同PPF模式的巴西受试者的MBL2基因内的这些多态性进行了基因分型。
MBL2基因的多态性和单倍型与晚期PPF模式之间无关联。晚期纤维化个体的MBL水平较高。MBL的高表达单倍型之间存在风险关联，A/O外显子1基因型与MBL血清水平升高之间存在保护关联。
我们的结果表明，外显子1的多态性和MBL单倍型可能潜在地用于预测巴西人群中晚期PPF的严重程度。
