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Mannose‐binding lectin gene polymorphisms and the development of coal workers' pneumoconiosis in Japan
Author(s) -
Wang Xintao,
Ohtsuka Yoshinori,
Kimura Kiyonobu,
Kaji Hiroshi,
Saito Junpei,
Tanino Yoshinori,
Ishida Takashi,
Munakata Mitsuru
Publication year - 2008
Publication title -
american journal of industrial medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.7
H-Index - 104
eISSN - 1097-0274
pISSN - 0271-3586
DOI - 10.1002/ajim.20587
Subject(s) - mannan binding lectin , haplotype , pneumoconiosis , immunology , genotype , medicine , linkage disequilibrium , genetic predisposition , allele , polymorphism (computer science) , gene , genetics , lectin , biology , pathology , disease
Background 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. Method 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. Results 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. Conclusion MBL2 polymorphisms and haplotypes may be one of the genetic determinants for the susceptibility of CWP. Am. J. Ind. Med. 51:548–553, 2008. © 2008 Wiley‐Liss, Inc.