Analysis of single nucleotide polymorphisms in chronic beryllium disease.
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Analysis of single nucleotide polymorphisms in chronic beryllium disease. / Frye, Björn C; Gaede, Karoline I; Saltini, Cesare; Rossman, Milton D; Monos, Dimitri S; Rosenman, Ken D; Schuler, Christine R; Weston, Ainsley; Wegner, Ralf; Noth, Rainer; Zissel, Gernot; Schreiber, Stefan; Nothnagel, Michael; Müller-Quernheim, Joachim.
in: RESP RES, Jahrgang 22, Nr. 1, 107, 16.04.2021.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › Andere (Vorworte u.ä.) › Forschung
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TY - JOUR
T1 - Analysis of single nucleotide polymorphisms in chronic beryllium disease.
AU - Frye, Björn C
AU - Gaede, Karoline I
AU - Saltini, Cesare
AU - Rossman, Milton D
AU - Monos, Dimitri S
AU - Rosenman, Ken D
AU - Schuler, Christine R
AU - Weston, Ainsley
AU - Wegner, Ralf
AU - Noth, Rainer
AU - Zissel, Gernot
AU - Schreiber, Stefan
AU - Nothnagel, Michael
AU - Müller-Quernheim, Joachim
PY - 2021/4/16
Y1 - 2021/4/16
N2 - 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.
AB - 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.
KW - Berylliosis/genetics
KW - Beryllium/adverse effects
KW - Butyrophilins/genetics
KW - Chronic Disease
KW - DNA/genetics
KW - Female
KW - Humans
KW - Male
KW - Occupational Exposure/adverse effects
KW - Polymorphism, Single Nucleotide
U2 - 10.1186/s12931-021-01691-2
DO - 10.1186/s12931-021-01691-2
M3 - Other (editorial matter etc.)
C2 - 33863318
VL - 22
JO - RESP RES
JF - RESP RES
SN - 1465-993X
IS - 1
M1 - 107
ER -