慢性铍病中单核苷酸多态性分析。

Analysis of single nucleotide polymorphisms in chronic beryllium disease.

机构信息

Department of Pneumology, Faculty of Medicine, Medical Center-University of Freiburg, University of Freiburg, Killianstrasse 5, 79106, Freiburg, Germany.

BioMaterial Bank Nord, Research Center Borstel, Leibniz Lung Center, 23845 Borstel, Parkallee 35, Germany.

出版信息

Respir Res. 2021 Apr 16;22(1):107. doi: 10.1186/s12931-021-01691-2.

DOI:10.1186/s12931-021-01691-2

PMID:33863318

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8051053/

Abstract

Sarcoidosis and chronic beryllium disease (CBD) are phenocopies, however the latter one has a clear trigger factor that is beryllium exposure. This study analyses single nucleotide polymorphisms (SNPs) in a large cohort for beryllium-exposed persons. SNPs were chosen for their relevance in sarcoidosis. Even though one of largest cohorts of beryllium-exposed persons was analysed, no statistically relevant association between any SNP and CBD could be verified. Notably, some SNPs exhibit inverse OR for beryllium sensitization and CBD with nominally statistical significance, which allows hypothesizing about pathophysiological role of genes for the disease triggering and development.

摘要

结节病和慢性铍病（CBD）是表型模拟，然而后者有一个明确的触发因素，即铍暴露。本研究分析了大量铍暴露人群中的单核苷酸多态性（SNPs）。选择这些 SNPs 是因为它们与结节病有关。尽管分析了最大的铍暴露人群之一，但没有发现任何 SNP 与 CBD 之间存在统计学上显著的相关性。值得注意的是，一些 SNPs 表现出与铍致敏和 CBD 的逆比值，具有名义统计学意义，这允许假设基因在疾病触发和发展中的病理生理作用。