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SUMF1 Common Variant rs793391 Is Associated with Response to Inhaled Corticosteroids in Patients with COPD
Charikleia Ntenti1,2, Eleni Papakonstantinou1, Leticia Grize1
1Clinic of Respiratory Medicine, University of Freiburg, Faculty of Medicine, University of Freiburg, 79098 Freiburg im Breisgau, Germany.
Specific gene variants in sulfatase modifying factor-1 (SUMF1) may predict chronic obstructive pulmonary disease (COPD) progression and response to inhaled corticosteroids (ICS). The rs793391 SNP showed improved lung function with ICS treatment.
Area of Science:
- Genetics and Respiratory Medicine
- Pharmacogenomics
- Chronic Obstructive Pulmonary Disease (COPD) Research
Background:
- Altered sulfatase modifying factor-1 (SUMF1) expression and its genetic variants are implicated in COPD risk and progression.
- Previous research linked specific SUMF1 SNPs to lung function, suggesting a potential role in COPD pathogenesis.
Purpose of the Study:
- To investigate the association of SUMF1 single nucleotide polymorphisms (SNPs) with COPD progression.
- To determine if SUMF1 SNPs influence response to inhaled corticosteroid (ICS) treatment, specifically budesonide, in COPD patients.
Main Methods:
- Genotyping of 165 COPD patients from the HISTORIC study for SUMF1 SNPs rs11915920 and rs793391.
- A 12-month randomized controlled trial comparing triple therapy (LAMA/LABA/ICS) versus dual therapy (LAMA/LABA) with a placebo inhaler.
Main Results:
- COPD patients with the rs793391 TG genotype showed a significant FEV1 improvement with ICS treatment compared to placebo.
- This genetic association was supported by improvements in patient-reported outcomes, including SGRQ, CAT scores, and General Health Questionnaire scores.
Conclusions:
- The SUMF1 rs793391 polymorphism may be a predictive biomarker for ICS response in COPD.
- These findings support the potential for personalized medicine approaches in managing COPD based on genetic profiles.
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