Research to Practice Implications of High-Risk Genotypes for Beryllium Sensitization and Disease

Abstract

Objective Beryllium workers may better understand their genetic susceptibility to chronic beryllium disease (CBD) expressed as population-based prevalence, rather than odds ratios from case-control studies. Methods We calculated CBD prevalences from allele-specific DNA sequences of 853 workers for Human Leukocyte Antigen (HLA)-DPB1 genotypes and groups characterized by number of E69-containing alleles and by calculated surface electronegativity of HLA-DPB1. Results Of 18 groups of at least 10 workers with specific genotypes, CBD prevalence was highest, 72.7%, for the HLA-DPB1*02:01:02/DPB1*17:01 genotype. Population-based grouped genotypes with two E69 alleles wherein one allele had −9 surface charge had a beryllium sensitization (BeS) of 52.6% and a CBD prevalence of 42.1%. Conclusions The high CBD and BeS prevalences associated with −9-charged E69 alleles and two E69s suggest that workers may benefit from knowing their genetic susceptibility in deciding whether to avoid future beryllium exposure.

International Symposium on Occupational Safety and Hygiene: Proceedings Book of the SHO2020

“…Homozygotes are individuals who have two copies of the gene, one from each parent. The allelic frequencies are higher for Chinese and Hispanics as compared to Caucasians and African Americans (Weston, 2002) (Kreiss, 2016).…”

NIOSH’s Respiratory Health Division: 50 years of science and service

“…Since the 1990s, RHD has partnered with a major beryllium producer on a multidisciplinary research project that has substantially improved the understanding of this hazard. Noteworthy achievements include characterization of what had been an elusive exposure–response relationship, 87,88 description of genetic contributions to risk of sensitization and disease, 89–91 and demonstration of the effectiveness of a comprehensive preventive program that includes periodic medical surveillance. 92–94 RHD also examined beryllium physicochemistry and toxicology, for instance publishing in this journal the results of experimental studies of the interaction between process materials and artificial airway epithelial lining fluid.…”