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Am J Epidemiol 2003; 157:388-398.
Copyright © 2003 by Johns Hopkins Bloomberg School of Public Health


HUMAN GENOME EPIDEMIOLOGY (HuGE) REVIEW

HLA-DPB1 and Chronic Beryllium Disease: A HuGE Review

Erin C. McCanlies1,, Kathleen Kreiss2, Michael Andrew1 and Ainsley Weston3

1 Biostatistics and Epidemiology Branch, Health Effects Laboratory Division, National Institute for Occupational Safety and Health, Morgantown, WV.
2 Field Studies Branch, Division of Respiratory Disease Studies, National Institute for Occupational Safety and Health, Morgantown, WV.
3 Toxicology and Molecular Biology Branch, Health Effects Laboratory Division, National Institute for Occupational Safety and Health, Morgantown, WV.

The human leukocyte antigen (HLA) complex is a series of genes located on chromosome 6 that are important in normal immune function. Susceptibility to chronic beryllium disease, a granulomatous lung disease that appears in workers exposed to beryllium, is modified by genetic variants of the HLA-DP subregion. Evaluation of HLA-DPB1 sequence motifs in current and former beryllium workers implicated a glutamic acid residue at position 69 (HLA-DPB1Glu69) in chronic beryllium disease. This finding has since been extended to specific HLA-DPB1Glu69 alleles. Specific job tasks have also been implicated in degree of risk, and in this paper the authors explore gene-environment interaction. The utility of this genetic information for prospective, current, and former beryllium workers must be weighed against the potential for employment and insurance discrimination. Continued research in the beryllium-exposed population will be important for improving personal risk assessment and identifying high-risk genes associated with disease progression.

berylliosis; beryllium; chronic beryllium disease; epidemiology; genetic screening; HLA-DP antigens; HLA-DPB1; occupational exposure

Abbreviations: Abbreviations: Arg, arginine; Asp, aspartic acid; BHWCD, beryllium hypersensitivity without clinical disease; CBD, chronic beryllium disease; CI, confidence interval; Glu, glutamic acid; HLA, human leukocyte antigen; Lys, lysine; OR, odds ratio; TNF-{alpha}, tumor necrosis factor-{alpha}.


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