Abstract
Coal workers’ pneumoconiosis (CWP) has been associated with abnormalities in the extracellular matrix remodeling, as well as aberrant matrix metalloproteinases (MMPs) in lung tissues. We investigated the association of three functional polymorphisms in MMP gene promoters (MMP1 rs1799750, MMP2 rs2285053 and MMP3 rs522616) with the risk of CWP. A total of 693 CWP cases and 690 controls were included in a case-control study. Genotype analysis was performed by the TaqMan method. Statistically significant differences were found in distributions of MMP3 rs522616 under a recessive model (p = 0.047) between CWP cases and controls. In the stratification analysis, individuals with MMP3 rs522616 GG genotype decreased the risk of CWP (adjusted OR = 0.72, 95% CI = 0.52–0.99) compared to those with AA/AG genotype obviously, particularly among subgroups of no smokers (adjusted OR = 0.64, 95% CI = 0.41–1.00). Furthermore, serum MMP3 protein levels measured with enzyme-linked immune-sorbent assay in the control group was significantly lower than that in the CWP groups (p = 0.02). Extremely lower MMP3 among subjects with the rs522616 GG or AG genotype compared with the AA genotype carriers (p < 0.05, p < 0.01 respectively) in the normal serum. These findings indicate that the MMP3 rs522616 polymorphism may contribute to the etiology of CWP in the Chinese population and MMP3 might be a potential diagnostic biomarker for CWP, additional independent studies are warranted to validate our findings in different populations as well as in a larger series.
Highlights
Coal workers’ pneumoconiosis (CWP) is a chronic occupational lung disease characterized by the pathological accumulation of extracellular matrix (ECM) proteins [1]
For MMP2 rs2285053 polymorphism, we did not find any significant association with CWP, being with quite similar allelic and genotypes frequencies in CWP groups and controls, whereas we found that the MMP1rs1799750 1G allele was significantly more frequent in CWP patients than in controls (0.364 vs. 0.324, p = 0.027), suggesting an increased risk of CWP (OR = 1.20, 95% confidence intervals (CIs) = 1.02–1.40)
Genotypes in CWP serum samples (1.98 ± 0.70, 2.00 ± 1.16 and 2.72 ± 1.33 μg/mL. n = 12 in each group, Figure 1B). In this present case-control study, three functional polymorphisms in the MMP1, MMP2, and MMP3 genes were investigated in regard to an association with risk of CWP in a Chinese population
Summary
Coal workers’ pneumoconiosis (CWP) is a chronic occupational lung disease characterized by the pathological accumulation of extracellular matrix (ECM) proteins [1]. It is one of the most widespread occupational lung diseases in China. The exposure to long-term inhalation of coal dust which usually contains free crystalline silica within the lungs [2] can trigger inflammation of the alveoli, eventually resulting in irreversible lung fibrosis and damage [3]. Many factors contribute to CWP, including the workplace characteristics and susceptible individuals [5,6,7]. Identification of new genetic factors for CWP, as well as safer work environment, is needed for strengthening CWP prevention measures
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