Abstract
Infection, immunity and genetic factors play roles in the development of coal worker's pneumoconiosis (CWP) and progressive massive fibrosis (PMF). We investigate whether the genetic polymorphisms of mannose-binding lectin (MBL), one of the key molecules of innate immunity, is associated with the susceptibility to CWP. MBL2 polymorphisms (codon54, promoter -221, and -550) were assessed for 197 patients with CWP (119 with nodular CWP and 78 with PMF) and 153 unexposed regional controls. Serum MBL concentrations were measured in 119 CWP patients. Three polymorphisms were in linkage disequilibrium for all study populations. The MBL2 genotype and haplotypes were associated with lower serum MBL levels. The frequency of such MBL2 genotype and haplotypes were significantly higher in patients with CWP compared to controls, whereas these distributions were not different between patients with nodular CWP and those with PMF. MBL2 polymorphisms and haplotypes may be one of the genetic determinants for the susceptibility of CWP.
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