Objective: To detect of gene expression and genotype of the ataxia telangiectasia mutated (ATM) from coal workers' pneumoconiosis (CWP) , It is explored whether CWP is related to ATM gene. Methods: In October 2020, the relevant information of 264 subjects who received physical examination or medical treatment in the Department of occupational diseases of Guiyang public health treatment center from January 2019 to September 2020 was collected. Through the occupational health examination, 67 healthy people with no history of exposure to occupational hazards were selected as the healthy control group; The coal miners with more than 10 years of coal dust exposure history and small shadow in the lung but not up to the diagnostic criteria were the dust exposure control group, a total of 66 people; The patients with the same history of coal dust exposure and confirmed stage I were coal worker's pneumoconiosis stage I group, a total of 131 people. The expression of ATM was detected by QRT PCR. ATM rs189037 and rs1801516 were genotyped by massarray. Results: There was significant difference in the expression of ATM among the groups (P<0.05) ; Compared with the healthy control group, the expression of ATM in the dust exposed control group was significantly increased (P<0.05) . With the occurrence and development of CWP, the GG of rs189037 wild type decreased, the GA of mutant heterozygote and AA of homozygote increased, but the difference was not statistically significant (P>0.05) ; Rs1801516 wild type GG and mutant heterozygote GA had no significant changes (P>0.05) . There were significant differences in age, neutrophils and basophils among rs189037 groups (all P<0.05) . There were no significant differences in blood pressure, eosinophils, lymphocytes, monocytes, smoking and drinking history among rs189037 groups (all P>0.05) . Compared with wild-type GG, the or of mutant heterozygotes and homozygotes increased, but the differences were not statistically significant (P>0.05) . Conclusion: ATM gene may be one of the early activation genes of CWP and rs189037 may be the functional loci which affects gene expression. ATM gene is related to inflammatory response, Neutrophils and basophils have an impact on the development of CWP.
Anthracosis/genetics* ; Ataxia Telangiectasia ; Ataxia Telangiectasia Mutated Proteins/genetics* ; China ; Coal ; Coal Mining ; Humans ; Miners ; Pneumoconiosis/epidemiology* ; Polymorphism, Single Nucleotide

Anthracosis ; complications ; Bacterial Proteins ; genetics ; Humans ; Methicillin Resistance ; genetics ; Methicillin-Resistant Staphylococcus aureus ; drug effects ; genetics ; Penicillin-Binding Proteins ; Respiratory Tract Infections ; complications ; microbiology ; Sputum ; microbiology

OBJECTIVETo investigate the effects of FAS and FASL gene polymorphisms on genetic susceptibility of coal worker's pneumoconiosis and their relationship to the pulmonary fibrosis.

METHODS340 with coal worker's pneumoconiosis (CWP) and 312 coal mine workers (controls) exposed to the coal dusts were selected. FAS-1377G > A, FAS-670A > G and FASL-844T > C gene polymorphisms were analyzed by PCR-RFLP techniques.

RESULTSThe distribution frequencies of genotypes of FAS-1377, FAS-670, FASL-844 genotypes in CWP had no significant differences compared to the control. Compared to CWP patients with exposure year > or = 25, the risk of pneumoconiosis with FAS-1377 GA/AA genotype was significantly higher than those with FAS-1377GG in the patients working age < 25 years (P = 0.098, 95% CI: 0.932 approximately 2.298); the risk of CWP in those with FAS-670AG genotype was higher than those with FAS-670GG genotype (P = 0.098, 95% CI: 0.928 approximately 2.404) the risks of CWP in those with FASL-844TT genotype and FASL-844TC genotype were respectively higher than those with FASL-844CC genotype (P = 0.039, 95% CI: 1.088 approximately 27.358, P = 0.089, 95% CI: 0.852 approximately 2.101). The frequencies of genotypes of FASL-844T > C were significantly different between CWP patients with exposure year > or = 25 and < 25. The risk of CWP with FASL-844TT genotype was significantly higher than that of FASL-844TT + TC (P = 0.054, 95% CI: 0.971 approximately 23.833). The risk of CWP patients with FASL-844TT/CT + FAS-1377GA genotype was 1.810-fold than the patients with FASL-844CC + FAS-1377GG genotype. The risk of CWP patients with FASL-844TT/CT + FAS-670AG genotype was 2.117-fold than the patients with FASL-844CC + FAS-670AA genotype. The risk of CWP patients with FASL-844TT/TC + FAS-1377GA/AA + FAS-670AG/GG genotype was 2.043-fold than the patients with FASL-844CC + FAS-1377GG+FAS-670AA genotype.

CONCLUSIONFAS-1377G > A, FAS-670A > G and FASL-844T > C gene polymorphisms may not be associated with the susceptibility of CWP in Han nationality, but these three gene polymorphisms and their joint actions may influence on the progression of CWP.

Adult ; Aged ; Aged, 80 and over ; Anthracosis ; genetics ; China ; Fas Ligand Protein ; genetics ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic ; fas Receptor ; genetics

OBJECTIVETo explore the role of -1C/T single nucleotide polymorphism within Annexin A5 gene in the genetic susceptibility to coal worker's pneumoconiosis (CWP).

METHODSFour hundred and seventy CWP Han chinese patients and 428 Han chinese controls were enclosed in present case-control study. All subjects were exposed to coal dusts. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the -1C/T SNP in Annexin A5 gene for all subjects. The relationship between the -1C/T SNP in Annexin A5 gene and CWP was analyzed.

RESULTSCT/TT genotype in -1C/T SNP was associated with a significantly decreased risk of CWP, as compared with the CC genotype among subgroups exposed to coal dusts for ≥ 27 years (adjusted OR = 0.65, 95%CI: 0.44 - 0.98, P = 0.039) and patients with CWP at stage II (adjusted OR = 0.55, 95%CI: 0.34 - 0.90, P = 0.028).

CONCLUSIONThe results of present study suggest that the Annexin A5 -1C/T polymorphism may be involved in the development of CWP in Han Chinese coal miners.

Aged ; Annexin A5 ; genetics ; Anthracosis ; genetics ; Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide

OBJECTIVETo explore the possible association between six single nucleotide polymorphisms (SNPs) of Fas pathway genes and the risks of coal worker pneumoconiosis (GWP).

METHODSThis case-control study consisted of 511 male patients with CWP and 530 male controls from the same coal mines. Five SNPs of Fas pathway genes were detected by restriction fragment length polymorphisms (PCR-RFLP) and CASP3 (rs6948) was genotyped by quantitative real-time polymerase chain reaction (qRT-PCR).

RESULTSThere were no differences of genotype frequencies of 6 SNPs between cases with CWP and controls. A significant increased risk of CWP was found in subjects with CASP8-652DD genotype as compared to subjects with CASP8-652II genotype (P < 0.05), and the further stratification analysis showed that smoking cases with CWP stage I, long exposure time and CASP8-652DD genotype had high risk of CWP (P < 0.05). The analysis of gene-gene interactions indicated that the carriers with FAS-1377GG/CASP8-652DD, FAS-670AG/CASP8-652DD and FASL-844CT/CASP8-652DD had the increased risk of CWP, and the carriers with FAS-1377GA/CASP8-652ID had the reduced risk of CWP. There were no significant differences of exposure times among the cases with CWP stage I and 3 genotypes of CASP8-652.

CONCLUSIONCASP8-652 6N DD genotype may play a role in CWP development and interact with SNPs of FAS-1377, FAS-670 and FASL-844.

Aged ; Aged, 80 and over ; Anthracosis ; genetics ; Case-Control Studies ; Caspase 8 ; genetics ; Genotype ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Risk Factors ; Signal Transduction ; fas Receptor ; genetics

Aged ; Anthracosis ; genetics ; Case-Control Studies ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic ; Transforming Growth Factor beta ; genetics ; Tumor Necrosis Factor-alpha ; genetics

OBJECTIVETo explore whether the tagging single nucleotide polymorphisms (SNPs) within EPHX1 gene were involved in the genetic susceptibility to coal worker's pneumoconiosis (CWP) by case-control study.

METHODSThis study consisted of 697 CWP patients and 694 controls. All the subjects were Han Chinese, underground coal miners and recruited from coal mines of Xuzhou Mining Business Group Co Ltd.. The venous blood samples were obtained from all subjects and extracted genome DNA from the isolated leucocytes. Three SNPs were selected from the HapMap and the genotyping was done by the TaqMan method with the ABI 7900HT Real Time PCR system.

RESULTSThe Single SNP analyses showed that the genotype frequencies of EPHX1 (rs2234922) was significantly associated with decreased risk of CWP under co-dominant model (OR = 0.22, 95% CI = 0.06~0.79, P = 0.020), recessive model (OR = 0.23, 95% CI = 0.06~0.82, P = 0.023), and addictive model (OR = 0.75, 95% CI = 0.58~0.96, P = 0.022). The further stratification analysis showed that the risk of CWP will significantly decreased in non-smoking groups (OR = 0.10, 95% CI = 0.01~0.83, P = 0.033).

CONCLUSIONSOur results suggest that individuals with the EPHX1 (rs223492) GG genotype was associated with a dereased risk of CWP, and it has a protective effect on the developing CWP.

Anthracosis ; genetics ; Case-Control Studies ; Coal ; Epoxide Hydrolases ; genetics ; Genetic Predisposition to Disease ; Genotype ; Humans ; Polymorphism, Single Nucleotide ; Risk Factors ; Sequence Analysis, DNA

OBJECTIVEto explore whether 6 tagging single nucleotide polymorphisms (SNPs) within SMAD4 gene were involved in the genetic susceptibility of coal worker's pneumoconiosis (CWP) by case-control study.

METHODSthis study consisted of 438 CWP patients and 448 controls. All study subjects were Han Chinese, underground coal miners and recruited from coal mines of Xuzhou Mining Business Group Co Ltd. The 5 ml venous blood sample was obtained from all studied subjects and extracted genome DNA from the isolated leucocytes. Six SNPs were selected from the HapMap and detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).

RESULTSthe single SNP analyses showed that the genotype frequencies of SMAD4 (rs10502913) was significantly different from those in controls (P < 0.05). Multivariate logistic regression analyses revealed that SMAD4 (rs10502913) AA genotype was associated with increased risk of CWP (adjusted OR = 1.63, 95%CI = 1.00 - 2.69, P = 0.05) and this was evident among subgroups of those smoker (adjusted OR = 2.28, 95%CI = 1.09 ∼ 4.80, P < 0.05) and cases with stage I (adjusted OR = 2.42, 95%CI = 1.41 ∼ 4.14, P < 0.01). The SMAD4 (rs9304407) GG genotype was associated with an decreased risk of CWP (adjusted OR = 0.65, 95%CI = 0.43 ∼ 0.98, P < 0.05) and the further stratification analysis showed that the risk of CWP was decreased in nonsmoking groups.

CONCLUSIONSour results suggest that individuals with the SMAD4 (rs10502913) AA genotype was associated with an increased risk of CWP. However, carriers of SMAD4 (rs9304407) GG genotype have a protective effect on the developing CWP.

Aged ; Anthracosis ; genetics ; Case-Control Studies ; Coal Mining ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Smad4 Protein ; genetics

Aged ; Anthracosis ; microbiology ; Bacterial Proteins ; genetics ; China ; DNA Mutational Analysis ; DNA, Bacterial ; genetics ; DNA-Directed RNA Polymerases ; Drug Resistance, Bacterial ; genetics ; Humans ; L Forms ; genetics ; Middle Aged ; Mining ; Mutation ; Mycobacterium tuberculosis ; genetics ; isolation & purification ; Tuberculosis ; microbiology

OBJECTIVESTumor necrosis factor-alpha (TNF-alpha) may play an important role in host's immune response to mycobacterium tuberculosis (M. tuberculosis) infection. This study was to investigate the association of TNF-alpha gene polymorphism with pulmonary tuberculosis (TB) among patients with coal worker's pneumoconiosis (CWP).

METHODSA case-control study was conducted in 113 patients with confirmed CWP complicated with pulmonary TB and 113 non-TB controls with CWP. They were matched in gender, age, job, and stage of pneumoconiosis. All participants were interviewed with questionnaires and their blood specimens were collected for genetic determination with informed consent. The TNF-alpha gene polymorphism was determined with polymerase chain reaction of restriction fragment length polymorphism (PCR-RFLP). Frequency of genotypes was assessed for Hardy-Weinberg equilibrium by chi-square test or Fisher's exact probability. Factors influencing the association of individual susceptibility with pulmonary TB were evaluated with logistic regression analysis. Gene-environment interaction was evaluated by a multiplicative model with combined OR. All data were analyzed using SAS version 8.2 software.

RESULTSNo significant difference in frequency of the TNF-alpha-308 genotype was found between CWP complicated with pulmonary TB and non-TB controls (chi2 = 5.44, P = 0.07). But difference in frequency of the TNF-alpha-308 A allele was identified between them (chi2 = 5.14, P = 0.02). No significant difference in frequencies of the TNF-alpha-238 genotype and allele (P = 0.23 and P = 0.09, respectively) was found between cases and controls either, with combined (GG and AA) OR of 3.96 (95% confidence interval of 1.30-12.09) at the -308 locus of the TNF-alpha gene, as compared to combination of the TNF-alpha-238 GG and TNF-alpha-308 GG genotypes. Multivariate-adjusted odds ratio of the TNF-alpha-238 GG and TNF-alpha-308 GA genotypes was 1.98 (95% CI of 1.06-3.71) for risk for pulmonary TB in patients with CWP. There was a synergic interaction between the TNF-alpha-308 GG genotype and body mass index (OR = 4.92), as well as an interaction between the TNF-alpha-308 GG genotype and history of BCG immunization or history of TB exposure. And, the interaction of the TNF-alpha-238 GG genotype and history of BCG immunization or TB exposure with risk for pulmonary TB in them was also indicated.

CONCLUSIONSTNF-alpha-308 A allele is associated with an elevated risk for pulmonary TB, whereas TNF-alpha-238 A allele was otherwise.

Aged ; Aged, 80 and over ; Anthracosis ; complications ; Case-Control Studies ; Environmental Exposure ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Logistic Models ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; Tuberculosis, Pulmonary ; genetics ; Tumor Necrosis Factor-alpha ; genetics