HLA-DPB1 and Chronic Beryllium Disease: A HuGE Review

• Published in: American journal of epidemiology Vol. 157; no. 5; pp. 388 - 398
• Main Authors: McCanlies, Erin C., Kreiss, Kathleen, Andrew, Michael, Weston, Ainsley
• Format: Journal Article
• Language: English
• Published: Cary, NC Oxford University Press 01.03.2003; Oxford Publishing Limited (England)
• Subjects: Arg; arginine; Asp; aspartic acid; berylliosis; Berylliosis - epidemiology; Berylliosis - genetics; beryllium; beryllium hypersensitivity without clinical disease; BHWCD; Biological and medical sciences; CBD; Chemical compounds (mineral, organic); Chemical, physic and infectious diseases; Chromosomes, Human, Pair 6; chronic beryllium disease; Chronic Disease; confidence interval; epidemiology; Genetic Predisposition to Disease; genetic screening; Genetic Testing; Genetic Variation; Glu; glutamic acid; HLA; HLA-DP antigens; HLA-DP Antigens - genetics; HLA-DP beta-Chains; HLA-DPB1; human leukocyte antigen; Humans; Lys; lysine; Medical sciences; Occupational Diseases - genetics; occupational exposure; Occupational medicine; odds ratio; Public health. Hygiene-occupational medicine; TNF-α; tumor necrosis factor-α; Human; Lung disease; HLA-System; chronic beryllium disease; Occupational disease; Pneumoconiosis; Respiratory disease; Medical screening; Occupational exposure; HLA- DPB1; epidemiology; Berylliosis; Chronic; genetic screening; Epidemiologic genetics; Beryllium; Risk factor; Occupational medicine; Public health; HLA-DP antigens
• ISSN: 0002-9262; 1476-6256; 0002-9262
• DOI: 10.1093/aje/kwg001

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.