{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T00:52:29Z","timestamp":1791420749884,"version":"4.3.3"},"reference-count":33,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2019,10,9]],"date-time":"2019-10-09T00:00:00Z","timestamp":1570579200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004488","name":"Hrvatska Zaklada za Znanost","doi-asserted-by":"publisher","award":["IP-2016-06-1441; IP-2014-09-1247"],"award-info":[{"award-number":["IP-2016-06-1441; IP-2014-09-1247"]}],"id":[{"id":"10.13039\/501100004488","id-type":"DOI","asserted-by":"publisher"}]},{"name":"FP7-REGPOT-2012-2013-1","award":["Grant Agreement Number 316289 InnoMol"],"award-info":[{"award-number":["Grant Agreement Number 316289 InnoMol"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Chronic obstructive pulmonary disease (COPD) is a chronic disease characterized by a progressive decline in lung function due to airflow limitation, mainly related to IL-1\u03b2-induced inflammation. We have hypothesized that single nucleotide polymorphisms (SNPs) in NLRP genes, coding for key regulators of IL-1\u03b2, are associated with pathogenesis and clinical phenotypes of COPD. We recruited 704 COPD individuals and 1238 healthy controls for this study. Twenty non-synonymous SNPs in 10 different NLRP genes were genotyped. Genetic associations were estimated using logistic regression, adjusting for age, gender, and smoking history. The impact of genotypes on patients\u2019 overall survival was analyzed with the Kaplan\u2013Meier method with the log-rank test. Serum IL-1\u03b2 concentration was determined by high sensitivity assay and expression analysis was done by RT-PCR. Decreased lung function, measured by a forced expiratory volume in 1 s (FEV1% predicted), was significantly associated with the minor allele genotypes (AT + TT) of NLRP1 rs12150220 (p = 0.0002). The same rs12150220 genotypes exhibited a higher level of serum IL-1\u03b2 compared to the AA genotype (p = 0.027) in COPD patients. NLRP8 rs306481 minor allele genotypes (AG + AA) were more common in the Global Initiative for Chronic Obstructive Lung Disease (GOLD) definition of group A (p = 0.0083). Polymorphisms in NLRP1 (rs12150220; OR = 0.55, p = 0.03) and NLRP4 (rs12462372; OR = 0.36, p = 0.03) were only nominally associated with COPD risk. In conclusion, coding polymorphisms in NLRP1 rs12150220 show an association with COPD disease severity, indicating that the fine-tuning of the NLRP1 inflammasome could be important in maintaining lung tissue integrity and treating the chronic inflammation of airways.<\/jats:p>","DOI":"10.3390\/genes10100783","type":"journal-article","created":{"date-parts":[[2019,10,9]],"date-time":"2019-10-09T11:25:57Z","timestamp":1570620357000},"page":"783","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Association of NLRP1 Coding Polymorphism with Lung Function and Serum IL-1\u03b2 Concentration in Patients Diagnosed with Chronic Obstructive Pulmonary Disease (COPD)"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9757-6636","authenticated-orcid":false,"given":"Petar","family":"Ozreti\u0107","sequence":"first","affiliation":[{"name":"Ru\u0111er Bo\u0161kovi\u0107 Institute, Division of Molecular Medicine, 10 000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel Inacio","family":"da Silva Filho","sequence":"additional","affiliation":[{"name":"Division of Molecular Genetic Epidemiology, DKFZ, 69 120 Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Calogerina","family":"Catalano","sequence":"additional","affiliation":[{"name":"Division of Molecular Genetic Epidemiology, DKFZ, 69 120 Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5210-9196","authenticated-orcid":false,"given":"Irena","family":"Sokolovi\u0107","sequence":"additional","affiliation":[{"name":"Department for Respiratory Diseases Jordanovac, University of Zagreb School of Medicine, University Hospital Centre Zagreb, 10 000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Vuki\u0107-Dugac","sequence":"additional","affiliation":[{"name":"Department for Respiratory Diseases Jordanovac, University of Zagreb School of Medicine, University Hospital Centre Zagreb, 10 000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"\u0160uti\u0107","sequence":"additional","affiliation":[{"name":"Ru\u0111er Bo\u0161kovi\u0107 Institute, Division of Molecular Medicine, 10 000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matea","family":"Kurtovi\u0107","sequence":"additional","affiliation":[{"name":"Ru\u0111er Bo\u0161kovi\u0107 Institute, Division of Molecular Medicine, 10 000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gordana","family":"Bubanovi\u0107","sequence":"additional","affiliation":[{"name":"Department for Respiratory Diseases Jordanovac, University of Zagreb School of Medicine, University Hospital Centre Zagreb, 10 000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanja","family":"Popovi\u0107-Grle","sequence":"additional","affiliation":[{"name":"Department for Respiratory Diseases Jordanovac, University of Zagreb School of Medicine, University Hospital Centre Zagreb, 10 000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanda","family":"Skrinjari\u0107-Cincar","sequence":"additional","affiliation":[{"name":"Josip Juraj Strossmayer University of Osijek, School of Medicine, 31 000 Osijek, Croatia"},{"name":"Department of Pulmology, Universitiy Hospital Center Osijek, 31 000 Osijek, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8482-8889","authenticated-orcid":false,"given":"Oliver","family":"Vugrek","sequence":"additional","affiliation":[{"name":"Ru\u0111er Bo\u0161kovi\u0107 Institute, Division of Molecular Medicine, 10 000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irena","family":"Juki\u0107","sequence":"additional","affiliation":[{"name":"Croatian Institute of Transfusion Medicine, 10 000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lada","family":"Rumora","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry and Hematology, Faculty of Pharmacy and Biochemistry, University of Zagreb, 10 000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Bosnar","sequence":"additional","affiliation":[{"name":"Fidelta d.o.o., Prilaz baruna Filipovi\u0107a 29, 10 000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miroslav","family":"Samar\u017eija","sequence":"additional","affiliation":[{"name":"Department for Respiratory Diseases Jordanovac, University of Zagreb School of Medicine, University Hospital Centre Zagreb, 10 000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Bals","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine V-Pulmonology, Allergology, Intensive Care Medicine, Saarland University, 66 424 Homburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marko","family":"Jakopovi\u0107","sequence":"additional","affiliation":[{"name":"Department for Respiratory Diseases Jordanovac, University of Zagreb School of Medicine, University Hospital Centre Zagreb, 10 000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9857-4728","authenticated-orcid":false,"given":"Asta","family":"F\u00f6rsti","sequence":"additional","affiliation":[{"name":"Division of Molecular Genetic Epidemiology, DKFZ, 69 120 Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3152-3563","authenticated-orcid":false,"given":"Jelena","family":"Kne\u017eevi\u0107","sequence":"additional","affiliation":[{"name":"Ru\u0111er Bo\u0161kovi\u0107 Institute, Division of Molecular Medicine, 10 000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,10,9]]},"reference":[{"key":"ref_1","unstructured":"Akinbami, L.J., and Liu, X. 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