Dataset Information

Associations of SMAD4 rs10502913 and NLRP3 rs1539019 Polymorphisms with Risk of Coal Workers' Pneumoconiosis Susceptibility in Chinese Han Population.

ABSTRACT:

Purpose

CWP is an untreatable but preventable fibrotic lung disease caused by the chronic inhalation of coal dust. Genetic factors such as polymorphisms play an important role in the development of CWP. The present study investigated the association between the polymorphisms of SMAD4 and NLRP3 and CWP risk in a Chinese Han population.

Patients and methods

SMAD4 rs10502913 and NLRP3rs1539019 polymorphisms were examined in 292 CWP subjects and 315 coal dust-exposed controls. The genotypes were analyzed using direct sequencing. The allele and genotype proportion between the cases and controls were compared using the chi-square test.

Results

The AG and GG genotypes of SMAD4 rs10502913 were not associated with altered CWP risk compared with AA genotype (adjusted OR = 1.535 and 1.426, 95% CI = 0.785-3.000 and 0.732-2.781, p = 0.210 and 0.297, respectively). Also, the NLRP3 rs1539019 heterozygous and homozygous variants CA and CC genotypes were not associated with the risk of CWP compared with the AA genotype (adjusted OR = 0.985 and 1.127, 95% CI = 0.652-1.489 and 0.713-1.782, p = 0.944 and 0.608, respectively). In addition, there was no interaction between SMAD4 rs10502913 and NLRP3 rs1539019 genotypes and smoking status on CWP risk in the stratified analyses.

Conclusion

In this present study, SMAD4 rs10502913 and NLRP3 rs1539019 genotypes were not associated with altered CWP risk in the Chinese Han population. Large sample sizes and multicenter studies are needed to elucidate these results in the future.

SUBMITTER: Zhao H

PROVIDER: S-EPMC8904432 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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Publications

Associations of SMAD4 rs10502913 and NLRP3 rs1539019 Polymorphisms with Risk of Coal Workers' Pneumoconiosis Susceptibility in Chinese Han Population.

Zhao Hai H Huang Yaqiong Y Wang Hao H Zhao Juan J Tian Shanshan S Bai Haixia H Guo Mufang M Dong Caiping C Shi Yongliang Y Li Xia X Zhu Chengjun C Feng Tao T Ma Xia X Hou Zhifei Z

Pharmacogenomics and personalized medicine 20220304

<h4>Purpose</h4>CWP is an untreatable but preventable fibrotic lung disease caused by the chronic inhalation of coal dust. Genetic factors such as polymorphisms play an important role in the development of CWP. The present study investigated the association between the polymorphisms of SMAD4 and NLRP3 and CWP risk in a Chinese Han population.<h4>Patients and methods</h4>SMAD4 rs10502913 and NLRP3rs1539019 polymorphisms were examined in 292 CWP subjects and 315 coal dust-exposed controls. The gen ...[more]

PMID: 35280939

Similar Datasets

Project description:BackgroundThe interleukin 17A (IL-17A) which is located on chromosome 6p and has been linked to chronic inflammation, is an important candidate gene conferring coal workers' pneumoconiosis (CWP). The purpose of this study was to investigate the genetic association between single nucleotide polymorphisms (SNPs) of IL-17A and CWP in a Chinese population.MethodsWe conducted a case-control study to investigate the role of four common SNPs in the IL-17A gene, and evaluated the relationship between these four SNPs and dust-exposure year, tobacco smoking and stages of CWP. A total of 1391 subjects was enrolled in this study, including 694 subjects in control group and 697 in case group. TaqMan based qRT-PCRs were taken to genotype rs2275913, rs3748067, rs4711998, and rs8193036 within the IL-17A gene. Luciferase assays were used to determine the effects of rs8193036 C > T alleles on the expression of IL-17A.ResultsUnconditional logistic regression analysis showed that the genotypes of rs3748067 AA (adjusted OR = 0.43, 95 % CI = 0.23-0.83) and rs8193036 TT (adjusted OR = 0.59, 95 % CI = 0.40-0.86) were associated with a decreased risk of CWP, particularly among subgroups of smokers (adjusted OR =0.34, 95 % CI = 0.13-0.86 for rs3748076; adjusted OR = 0.41, 95 % CI = 0.23-0.71 for 8193036) and CWP cases with stage I (adjusted OR = 0.45, 95 % CI = 0.21-0.98 for rs3748076; adjusted OR = 0.46, 95 % CI = 0.28-0.74 for 8193036). Furthermore, the polymorphism of rs3748067 significantly reduced the CWP risk among cases with over 27 years of dust exposure (adjusted OR = 0.42, 95 % CI = 0.18-0.97). The luciferase assays in two cell lines showed that the rs8193036 C > T substitution could reduce the expression of IL-17A, which was consistent with the findings of our association study.ConclusionsThe rs3748067 G > A and rs8193036 C > T polymorphisms decrease CWP risk. These findings could be helpful in identifying individuals at decreased risk for CWP and further studies are warranted to validate them.

Dataset Information

Associations of SMAD4 rs10502913 and NLRP3 rs1539019 Polymorphisms with Risk of Coal Workers' Pneumoconiosis Susceptibility in Chinese Han Population.

Purpose

Patients and methods

Results

Conclusion

Publications

Associations of SMAD4 rs10502913 and NLRP3 rs1539019 Polymorphisms with Risk of Coal Workers' Pneumoconiosis Susceptibility in Chinese Han Population.

Similar Datasets

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