{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T00:57:27Z","timestamp":1772931447905,"version":"3.50.1"},"reference-count":30,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2022,5,5]],"date-time":"2022-05-05T00:00:00Z","timestamp":1651708800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001826","name":"TopZorg Lung Grant funded by ZonMw","doi-asserted-by":"publisher","award":["842002001"],"award-info":[{"award-number":["842002001"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Sarcoidosis is an immune mediated granulomatous disease commonly affecting the lungs. Genome wide association studies identified many genomic regions that are shared among multiple immune mediated diseases. However, ANXA11 gene polymorphism rs1049550 is exclusively associated with sarcoidosis, making it a key gene of interest for sarcoidosis disease pathogenesis. However, sarcoidosis is a heterogeneous disease and contradictory findings for ANXA11 have been reported for disease phenotypes. We performed a case\u2013control association study to investigate if ANXA11 associates with benign (L\u00f6fgren\u2019s syndrome (LS)) or chronic sarcoidosis and performed a meta-analysis on previously reported findings. A total of 262 sarcoidosis patients, of which 149 had LS and 113 chronic sarcoidosis, and 363 controls were genotyped for rs1049550. Meta-analysis included allele findings for rs1049550 from 6 additional studies. We found a significantly lower T allele frequency in sarcoidosis patients than in healthy controls (0.30 vs. 0.41, respectively, odds ratio (OR) 0.61, 95% confidence interval (CI) 0.48\u20130.77, p = 3 \u00d7 10\u22125). In LS the T allele frequency of 0.33, and in chronic sarcoidosis the T allele frequency of 0.26 were significantly lower than in healthy controls (OR 0.69, 95% CI 0.52\u20130.92, p = 0.01 and OR 0.51, 95% CI 0.36\u20130.70, p = 4 \u00d7 10\u22125, respectively). Meta-analysis including previously published European, African American and Asian cohorts confirmed the association of rs1049550 with sarcoidosis and resulted in a pooled OR of 0.70 (CI 0.66\u20130.75, p = 3.58 \u00d7 10\u221229). Presence of the T allele of rs1049550 in ANXA11 is protective for sarcoidosis, including benign and chronic phenotypes of the disease.<\/jats:p>","DOI":"10.3390\/cells11091557","type":"journal-article","created":{"date-parts":[[2022,5,5]],"date-time":"2022-05-05T13:10:26Z","timestamp":1651756226000},"page":"1557","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["ANXA11 rs1049550 Associates with L\u00f6fgren\u2019s Syndrome and Chronic Sarcoidosis"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9180-5239","authenticated-orcid":false,"given":"Bekir","family":"Karakaya","sequence":"first","affiliation":[{"name":"Interstitial Lung Diseases Center of Excellence, Department of Pulmonology, St. Antonius Hospital, Mailbox 2500, 3430 EM Nieuwegein, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6727-8416","authenticated-orcid":false,"given":"Joanne","family":"van der Vis","sequence":"additional","affiliation":[{"name":"Interstitial Lung Diseases Center of Excellence, Department of Pulmonology, St. Antonius Hospital, Mailbox 2500, 3430 EM Nieuwegein, The Netherlands"},{"name":"Interstitial Lung Diseases Center of Excellence, Department of Clinical Chemistry, St. Antonius Hospital, Mailbox 2500, 3430 EM Nieuwegein, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcel","family":"Veltkamp","sequence":"additional","affiliation":[{"name":"Interstitial Lung Diseases Center of Excellence, Department of Pulmonology, St. Antonius Hospital, Mailbox 2500, 3430 EM Nieuwegein, The Netherlands"},{"name":"Division of Heart & Lungs, University Medical Center Utrecht, Postbus 85500, 3508 GA Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Douwe","family":"Biesma","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Leiden University Medical Center, Mailbox 9600, 2300 RC Leiden, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Grutters","sequence":"additional","affiliation":[{"name":"Interstitial Lung Diseases Center of Excellence, Department of Pulmonology, St. Antonius Hospital, Mailbox 2500, 3430 EM Nieuwegein, The Netherlands"},{"name":"Division of Heart & Lungs, University Medical Center Utrecht, Postbus 85500, 3508 GA Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Coline","family":"van Moorsel","sequence":"additional","affiliation":[{"name":"Interstitial Lung Diseases Center of Excellence, Department of Pulmonology, St. Antonius Hospital, Mailbox 2500, 3430 EM Nieuwegein, The Netherlands"},{"name":"Division of Heart & Lungs, University Medical Center Utrecht, Postbus 85500, 3508 GA Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,5,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1055\/s-0037-1602380","article-title":"L\u00f6fgren\u2019s Syndrome: Diagnosis, Management, and Disease Pathogenesis","volume":"38","author":"Karakaya","year":"2017","journal-title":"Semin. 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