The role of gene–environment interplay in occupational and environmental diseases: current concepts and knowledge gaps

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Purpose of review

The interplay between genetic susceptibilities and environmental exposures in the pathogenesis of a variety of diseases is an area of increased scientific, epidemiologic, and social interest. Given the variation in methodologies used in the field, this review aims to create a framework to help understand occupational exposures as they currently exist and provide a foundation for future inquiries into the biological mechanisms of the gene–environment interactions. Understanding of this complex interplay will be important in the context of occupational health, given the public health concerns surrounding a variety of occupational exposures.

Recent findings

Studies found evidence that suggest genetics influence the progression of disease postberyllium exposure through genetically encoded major histocompatibility complex, class II, DP alpha 2 (HLA–DP2)–peptide complexes as it relates to T-helper cells. This was characterized at the molecular level by the accumulation of Be-responsive CD4+ T cells in the lung, which resulted in posttranslational change in the HLA–DPB1 complex.


These studies provide important evidence of gene–environment association, and many provide insights into specific pathogenic mechanisms. The following includes a review of the literature regarding gene–environment associations with a focus on pulmonary diseases as they relate to the workplace.

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