铍致敏和疾病高风险基因型的研究对实践的启示
Research to Practice Implications of High-Risk Genotypes for Beryllium Sensitization and Disease.
作者信息
Kreiss Kathleen, Fechter-Leggett Ethan D, McCanlies Erin C, Schuler Christine R, Weston Ainsley
机构信息
Respiratory Health Division (Drs Kreiss, Fechter-Leggett, Schuler [former affiliation], Weston), Health Effects Laboratory Division (Drs McCanlies, Weston [former affiliation]), and Division of Safety Research, National Institute for Occupational Safety and Health, Morgantown, West Virginia (Dr Schuler).
出版信息
J Occup Environ Med. 2016 Sep;58(9):855-60. doi: 10.1097/JOM.0000000000000805.
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-DPB102:01:02/DPB117:01 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.
目的
铍作业工人可能会更好地理解以人群为基础的患病率所表示的他们对慢性铍病（CBD）的遗传易感性，而非病例对照研究中的比值比。
方法
我们根据853名工人的人类白细胞抗原（HLA）-DPB1基因型的等位基因特异性DNA序列以及以含E69等位基因数量和计算出的HLA-DPB1表面电负性为特征的组来计算CBD患病率。
结果
在至少有10名工人的具有特定基因型的18个组中，HLA-DPB102:01:02/DPB117:01基因型的CBD患病率最高，为72.7%。具有两个E69等位基因（其中一个等位基因表面电荷为-9）的基于人群分组的基因型的铍致敏率（BeS）为52.6%，CBD患病率为42.1%。
结论
与带-9电荷的E69等位基因和两个E69相关的高CBD和BeS患病率表明，工人在决定是否避免未来的铍暴露时，了解自己的遗传易感性可能会受益。
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