Sulfatase modifying factor 1 (SUMF1) is associated with Chronic Obstructive Pulmonary Disease
Julie Weidner1, Linnea Jarenbäck1, Kim de Jong2
1Respiratory Medicine and Allergology, Department of Clinical Sciences Lund, BMC, D12, Lund University, Skåne University Hospital, 221 84, Lund, Sweden.
Respiratory Research
|May 4, 2017
Summary
Sulfatase modifying factor 1 (SUMF1) gene expression and its genetic variants are linked to Chronic Obstructive Pulmonary Disease (COPD) risk in smokers. SUMF1 alterations in expression and specific SNPs are associated with COPD development and lung function.
Area of Science:
- Pulmonary Medicine
- Genetics
- Molecular Biology
Background:
- Sulfatase modifying factor 1 (SUMF1) deficiency in mice causes emphysema-like symptoms.
- The role of SUMF1 in human Chronic Obstructive Pulmonary Disease (COPD) remains unclear.
- Investigating SUMF1 in smokers with and without COPD is crucial.
Purpose of the Study:
- To determine if SUMF1 expression and genetic regulation differ between smokers with and without COPD.
- To explore the association between SUMF1 genetic variants and COPD risk.
- To analyze the impact of SUMF1 on lung function in COPD patients.
Main Methods:
- SUMF1 mRNA expression analyzed in sputum cells and blood from COPD patients and controls.
- Expression quantitative trait loci (eQTL) analysis to link SUMF1 single nucleotide polymorphisms (SNPs) with gene expression.
- Population-based cohort (Lifelines) used to examine SNP association with COPD.
- SUMF1 mRNA levels and lung function correlated with genotypes.
Main Results:
- SUMF1 splice variants showed lower expression in sputum cells of COPD patients.
- Twelve significant SNPs identified via eQTL analysis, with rs11915920 affecting SUMF1 expression in lung tissue, sputum, and fibroblasts.
- Two SNPs (rs793391 and rs308739) associated with COPD in the Lifelines cohort; rs793391 also linked to lung function changes.
Conclusions:
- SUMF1 expression is altered in COPD patients compared to controls.
- SUMF1 SNPs are associated with increased COPD risk and affect gene expression or lung function.
- SUMF1 plays a significant role in the pathogenesis of COPD.
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