{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T04:35:00Z","timestamp":1761194100668,"version":"build-2065373602"},"reference-count":22,"publisher":"MDPI AG","issue":"20","license":[{"start":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:00:00Z","timestamp":1761004800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Astra Zeneca","award":["unrestricted"],"award-info":[{"award-number":["unrestricted"]}]},{"name":"Clinic of Pneumology, University Hospital Basel, Switzerland"},{"name":"Swiss National Foundation","award":["320030_189280"],"award-info":[{"award-number":["320030_189280"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>This study investigated whether specific sulfatase modifying factor-1 (SUMF1) SNPs\u2014previously linked to lung function\u2014are associated with COPD progression and response to inhaled corticosteroid (ICS) treatment, specifically budesonide, given that SUMF1 expression is altered in COPD and its variants linked to increased disease risk. A subgroup of 165 COPD patients from the HISTORIC study were genotyped for two common SUMF1 SNPs, rs11915920 and rs793391. Patients first underwent a six-week run-in phase with open-label triple inhaled therapy (LAMA\/LABA\/ICS), then were randomized to receive either LAMA\/LABA\/placebo or LAMA\/LABA\/ICS for 12 months. Associations between SNPs, baseline characteristics, and response to ICS\u2014based on FEV1 change over 12 months\u2014were evaluated. Heterozygotes (TG) for the rs793391 polymorphism treated with LAMA\/LABA\/ICS showed a significant and clinically meaningful FEV1 improvement compared to the placebo group. This was supported by improved patient-reported outcomes, with lower SGRQ and CAT scores and a clinically relevant increase in General Health Questionnaire scores. These findings suggest that rs793391 may be linked to both COPD progression and ICS response and could contribute to more personalized treatment strategies in COPD.<\/jats:p>","DOI":"10.3390\/ijms262010225","type":"journal-article","created":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T13:42:03Z","timestamp":1761054123000},"page":"10225","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["SUMF1 Common Variant rs793391 Is Associated with Response to Inhaled Corticosteroids in Patients with COPD"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3769-9903","authenticated-orcid":false,"given":"Charikleia","family":"Ntenti","sequence":"first","affiliation":[{"name":"Clinic of Respiratory Medicine, University of Freiburg, Faculty of Medicine, University of Freiburg, 79098 Freiburg im Breisgau, Germany"},{"name":"First Laboratory of Pharmacology, School of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleni","family":"Papakonstantinou","sequence":"additional","affiliation":[{"name":"Clinic of Respiratory Medicine, University of Freiburg, Faculty of Medicine, University of Freiburg, 79098 Freiburg im Breisgau, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leticia","family":"Grize","sequence":"additional","affiliation":[{"name":"Clinic of Respiratory Medicine, University of Freiburg, Faculty of Medicine, University of Freiburg, 79098 Freiburg im Breisgau, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-0145-2407","authenticated-orcid":false,"given":"Maria","family":"Pascarella","sequence":"additional","affiliation":[{"name":"Emergency Department, University Hospital Basel, 4031 Basel, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3520-1868","authenticated-orcid":false,"given":"Bj\u00f6rn C.","family":"Frye","sequence":"additional","affiliation":[{"name":"Clinic of Respiratory Medicine, University of Freiburg, Faculty of Medicine, University of Freiburg, 79098 Freiburg im Breisgau, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9910-2063","authenticated-orcid":false,"given":"Sebastian","family":"F\u00e4hndrich","sequence":"additional","affiliation":[{"name":"Clinic of Respiratory Medicine, University of Freiburg, Faculty of Medicine, University of Freiburg, 79098 Freiburg im Breisgau, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Despoina","family":"Ioannidou","sequence":"additional","affiliation":[{"name":"First Laboratory of Pharmacology, School of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece"},{"name":"Pulmonary Department, Hippokration General Hospital of Thessaloniki, 54642 Thessaloniki, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Spasenija","family":"Savic Prince","sequence":"additional","affiliation":[{"name":"Pathology, Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, 4031 Basel, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonis","family":"Goulas","sequence":"additional","affiliation":[{"name":"First Laboratory of Pharmacology, School of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece"},{"name":"Clinical Research Unit, Special Unit for Biomedical Research and Education, School of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daiana","family":"Stolz","sequence":"additional","affiliation":[{"name":"Clinic of Respiratory Medicine, University of Freiburg, Faculty of Medicine, University of Freiburg, 79098 Freiburg im Breisgau, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,10,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Pillai, S.G., Ge, D., Zhu, G., Kong, X., Shianna, K.V., Need, A.C., Feng, S., Hersh, C.P., Bakke, P., and Gulsvik, A. 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