Abstract
Background: Chronic obstructive pulmonary disease (COPD) is a common, preventable, and manageable lung disease characterized by large heterogeneity in disease presentation and grades impairment. Inhaled corticosteroids (ICS) are commonly used to manage COPD/COPD-exacerbation. The patient’s response is characterized by interindividual variability without disease progression/survival modification. Objectives: We hypothesize that a therapeutic intervention may be more effective if single nucleotide polymorphisms (SNPs) are investigated. Methods: In 71 COPD patients under pulmonary rehabilitation, a small number of powerful SNPs, selected according to current literature, were analyzed; namely the glucocorticoid receptor gene NR3C1 (rs6190/rs6189/rs41423247), the glucocorticoid-induced transcript 1 gene (GLCCI1 rs37972), and the related co-chaperone FKBP5 gene (rs4713916). MDR1 rs2032582 was also evaluated. Lung function outcomes were assessed. Results: A significant association with functional outcomes, namely FEV1 (forced expiration volume/one second) and 6MWD (six-minutes walking distance), was found for rs4713916 and weakly for rs37972. The genotype rs4713916(GA) and, in a lesser extent, the genotype rs37972(TT), were more favorable than the wild-type. Conclusions: Our study supports a possible picture of pharmacogenomic control for COPD intervention. rs4713916 and, possibly, rs37972 may be useful predictors of clinical outcome. These results may help to tailor an optimal dose for individual COPD patients based on their genetic makeup.
| Original language | English |
|---|---|
| Article number | 2024 |
| Journal | International Journal of Molecular Sciences |
| Volume | 20 |
| Issue number | 8 |
| DOIs | |
| Publication status | Published - Apr 2 2019 |
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Keywords
- COPD
- Inhaled corticosteroid
- Lung function
- Rehabilomics
- Rs37972
- Rs471396
ASJC Scopus subject areas
- Catalysis
- Molecular Biology
- Spectroscopy
- Computer Science Applications
- Physical and Theoretical Chemistry
- Organic Chemistry
- Inorganic Chemistry
Cite this
FKBP5 rs4713916 : A potential genetic predictor of interindividual different response to inhaled corticosteroids in patients with chronic obstructive pulmonary disease in a real-life setting. / Russo, Patrizia; Tomino, Carlo; Santoro, Alessia; Prinzi, Giulia; Proietti, Stefania; Kisialiou, Aliaksei; Cardaci, Vittorio; Fini, Massimo; Magnani, Mauro; Collacchi, Francesco; Provinciali, Mauro; Giacconi, Robertina; Bonassi, Stefano; Malavolta, Marco.
In: International Journal of Molecular Sciences, Vol. 20, No. 8, 2024, 02.04.2019.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - FKBP5 rs4713916
T2 - A potential genetic predictor of interindividual different response to inhaled corticosteroids in patients with chronic obstructive pulmonary disease in a real-life setting
AU - Russo, Patrizia
AU - Tomino, Carlo
AU - Santoro, Alessia
AU - Prinzi, Giulia
AU - Proietti, Stefania
AU - Kisialiou, Aliaksei
AU - Cardaci, Vittorio
AU - Fini, Massimo
AU - Magnani, Mauro
AU - Collacchi, Francesco
AU - Provinciali, Mauro
AU - Giacconi, Robertina
AU - Bonassi, Stefano
AU - Malavolta, Marco
PY - 2019/4/2
Y1 - 2019/4/2
N2 - Background: Chronic obstructive pulmonary disease (COPD) is a common, preventable, and manageable lung disease characterized by large heterogeneity in disease presentation and grades impairment. Inhaled corticosteroids (ICS) are commonly used to manage COPD/COPD-exacerbation. The patient’s response is characterized by interindividual variability without disease progression/survival modification. Objectives: We hypothesize that a therapeutic intervention may be more effective if single nucleotide polymorphisms (SNPs) are investigated. Methods: In 71 COPD patients under pulmonary rehabilitation, a small number of powerful SNPs, selected according to current literature, were analyzed; namely the glucocorticoid receptor gene NR3C1 (rs6190/rs6189/rs41423247), the glucocorticoid-induced transcript 1 gene (GLCCI1 rs37972), and the related co-chaperone FKBP5 gene (rs4713916). MDR1 rs2032582 was also evaluated. Lung function outcomes were assessed. Results: A significant association with functional outcomes, namely FEV1 (forced expiration volume/one second) and 6MWD (six-minutes walking distance), was found for rs4713916 and weakly for rs37972. The genotype rs4713916(GA) and, in a lesser extent, the genotype rs37972(TT), were more favorable than the wild-type. Conclusions: Our study supports a possible picture of pharmacogenomic control for COPD intervention. rs4713916 and, possibly, rs37972 may be useful predictors of clinical outcome. These results may help to tailor an optimal dose for individual COPD patients based on their genetic makeup.
AB - Background: Chronic obstructive pulmonary disease (COPD) is a common, preventable, and manageable lung disease characterized by large heterogeneity in disease presentation and grades impairment. Inhaled corticosteroids (ICS) are commonly used to manage COPD/COPD-exacerbation. The patient’s response is characterized by interindividual variability without disease progression/survival modification. Objectives: We hypothesize that a therapeutic intervention may be more effective if single nucleotide polymorphisms (SNPs) are investigated. Methods: In 71 COPD patients under pulmonary rehabilitation, a small number of powerful SNPs, selected according to current literature, were analyzed; namely the glucocorticoid receptor gene NR3C1 (rs6190/rs6189/rs41423247), the glucocorticoid-induced transcript 1 gene (GLCCI1 rs37972), and the related co-chaperone FKBP5 gene (rs4713916). MDR1 rs2032582 was also evaluated. Lung function outcomes were assessed. Results: A significant association with functional outcomes, namely FEV1 (forced expiration volume/one second) and 6MWD (six-minutes walking distance), was found for rs4713916 and weakly for rs37972. The genotype rs4713916(GA) and, in a lesser extent, the genotype rs37972(TT), were more favorable than the wild-type. Conclusions: Our study supports a possible picture of pharmacogenomic control for COPD intervention. rs4713916 and, possibly, rs37972 may be useful predictors of clinical outcome. These results may help to tailor an optimal dose for individual COPD patients based on their genetic makeup.
KW - COPD
KW - Inhaled corticosteroid
KW - Lung function
KW - Rehabilomics
KW - Rs37972
KW - Rs471396
UR - http://www.scopus.com/inward/record.url?scp=85065413928&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85065413928&partnerID=8YFLogxK
U2 - 10.3390/ijms20082024
DO - 10.3390/ijms20082024
M3 - Article
C2 - 31022961
AN - SCOPUS:85065413928
VL - 20
JO - International Journal of Molecular Sciences
JF - International Journal of Molecular Sciences
SN - 1661-6596
IS - 8
M1 - 2024
ER -