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Polymorphisms of the IL‐1 gene complex in coal miners with silicosis †
Author(s) -
Yucesoy Berran,
Vallyathan Val,
Landsittel Douglas P.,
Sharp Dan S.,
Matheson Joanna,
Burleson Florence,
Luster Michael I.
Publication year - 2001
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 - 10.1002/1097-0274(200103)39:3<286::aid-ajim1016>3.0.co;2-7
Subject(s) - silicosis , pneumoconiosis , medicine , single nucleotide polymorphism , genotype , occupational lung disease , fibrosis , immunology , genotyping , inflammation , allele , pulmonary fibrosis , restriction fragment length polymorphism , pathology , gene , genetics , biology , asthma
Background Silicosis is characterized by fibrosing nodular lesions that eventually develop into progressive pulmonary fibrosis. Pro‐inflammatory cytokines, such as interleukin‐1 (IL‐1), play a key role in the development of silicosis by regulating mediators which are responsible for lung injury, inflammation, and potentially fibrosis. To study whether functional single nucleotide polymorphisms (SNPs) located in the regulatory elements of genes coding for the IL‐1α, IL‐1β, and IL‐1 receptor antagonist (RA) cytokines are associated with silicosis, we examined 318 Caucasian cases confirmed histopathologically with pulmonary silicosis and 163 controls without any apparent inflammation or other pulmonary disease. Methods Genotyping was carried out by polymerase chain reaction‐restriction fragment length polymorphism technique. Results The proportion of the IL‐1RA (+ 2018) allele 2 genotype was increased in miners with silicosis (0.27) compared to controls (0.16). The odds of being a case were 2.15 (CI = 1.4–3.3) times higher for subjects with at least one copy of allele 2. No statistically significant differences in the allelic frequencies or genotype distributions for IL‐1α (+ 4845) or IL‐1β (+ 3953) were found between the control and disease groups. Conclusions This is the first report showing an association between the IL‐1RA (+ 2018) polymorphism and silicosis, and suggests that this polymorphism may confer increased risk for the development of the disease. Am. J. Ind. Med. 39:286–291, 2001. Published 2001 Wiley‐Liss, Inc.