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. 2023 Jan;96(1):45-56.
doi: 10.1007/s00420-022-01893-1. Epub 2022 Jul 29.

Genetic susceptibility in pneumoconiosis in China: a systematic review

Sek Ying Chair  1   2   3 , Judy Yuet Wa Chan  4 , Bernard Man Hin Law  1 , Mary Miu Yee Waye  1   2   3 , Wai Tong Chien  1   2   3
Affiliations

Genetic susceptibility in pneumoconiosis in China: a systematic review

Sek Ying Chair et al. Int Arch Occup Environ Health. 2023 Jan.

Abstract

Objective: Pneumoconiosis, encompassing coal workers' pneumoconiosis (CWP), silicosis and asbestosis, is one of the most common occupational diseases in China. Previous studies revealed significant associations between genetic variations and pneumoconiosis risk among individuals in different countries. With the known variability of genetic makeup between ethnicities, susceptibility to pneumoconiosis due to genetic differences is likely to be ethnicity-specific. The present review aimed at providing a comprehensive overview on the association between genetic polymorphisms and susceptibility of pneumoconiosis, specifically among people in China.

Methods: The literature search was performed in seven English and Chinese databases using keywords related to the review aim. An appraisal of the methodological quality of the included studies was conducted using the assessment tool derived from the Strengthening the Reporting of Genetic Association Studies (STREGA) statement.

Results: Forty-five studies were included in this review. Genotypes of specific genes which are associated with the risk of CWP, silicosis and asbestosis were reported. Our findings showed that genes encoding inflammatory cytokines have been examined extensively, and they demonstrated an association between these genes and pneumoconiosis risk. Gene-environment interactions in pneumoconiosis susceptibility were also reported by a number of studies.

Conclusions: This review summarised the evidence demonstrating the association between genetic polymorphisms and pneumoconiosis susceptibility among people in China, and that various genotypes could modify their risk to develop pneumoconiosis. The findings prompt that identification of individuals at high pneumoconiosis risk through genetic screening and strategies limiting their exposure to dust could be a potential strategy for the control of this occupational disease in China.

Keywords: Asbestosis; Coal workers’ pneumoconiosis, silicosis; Genotype; Single nucleotide polymorphism.

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