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This study analyses single nucleotide polymorphisms (SNPs) in a large  cohort for beryllium-exposed persons. SNPs were chosen for their relevance in sarcoidosis. Even though one of largest cohorts of beryllium-exposed persons was analysed, no statistically relevant association between any SNP and CBD could be verified. Notably, some SNPs exhibit inverse OR for beryllium sensitization and CBD with nominally statistical significance, which allows hypothesizing about pathophysiological role of genes for the disease triggering and development.<\/jats:p>","DOI":"10.1186\/s12931-021-01691-2","type":"journal-article","created":{"date-parts":[[2021,4,16]],"date-time":"2021-04-16T11:36:11Z","timestamp":1618572971000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Analysis of single nucleotide polymorphisms in chronic beryllium disease"],"prefix":"10.1186","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3520-1868","authenticated-orcid":false,"given":"Bj\u00f6rn C.","family":"Frye","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karoline I.","family":"Gaede","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cesare","family":"Saltini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milton D.","family":"Rossman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitri S.","family":"Monos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken D.","family":"Rosenman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine R.","family":"Schuler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ainsley","family":"Weston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralf","family":"Wegner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rainer","family":"Noth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gernot","family":"Zissel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Schreiber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Nothnagel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim","family":"M\u00fcller-Quernheim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,4,16]]},"reference":[{"issue":"3","key":"1691_CR1","first-page":"316","volume":"35","author":"AS Mayer","year":"2014","unstructured":"Mayer AS, Hamzeh N, Maier LA. Sarcoidosis and chronic beryllium disease: similarities and differences. Semin Respir Crit Care Med. 2014;35(3):316\u201329.","journal-title":"SeminRespir Crit Care Med"},{"issue":"10","key":"1691_CR2","doi-asserted-by":"publisher","first-page":"e34","DOI":"10.1164\/rccm.201409-1722ST","volume":"190","author":"JR Balmes","year":"2014","unstructured":"Balmes JR, Abraham JL, Dweik RA, Fireman E, Fontenot AP, Maier LA, et al. An official american thoracic society statement: diagnosis and management of beryllium sensitivity and chronic beryllium disease. Am J Respir Crit Care Med. 2014;190(10):e34-59.","journal-title":"Am J Respir Crit Care Med"},{"issue":"1","key":"1691_CR3","doi-asserted-by":"publisher","first-page":"22","DOI":"10.4049\/jimmunol.1502011","volume":"196","author":"AP Fontenot","year":"2016","unstructured":"Fontenot AP, Falta MT, Kappler JW, Dai S, McKee AS. Beryllium-induced hypersensitivity: genetic susceptibility and neoantigen generation. J Immunol. 2016;196(1):22\u20137.","journal-title":"J Immunol"},{"issue":"3","key":"1691_CR4","first-page":"296","volume":"35","author":"A Fischer","year":"2014","unstructured":"Fischer A, Grunewald J, Spagnolo P, Nebel A, Schreiber S, Muller-Quernheim J. Genetics of sarcoidosis. SeminRespir Crit Care Med. 2014;35(3):296\u2013306.","journal-title":"SeminRespir Crit Care Med"},{"issue":"9","key":"1691_CR5","doi-asserted-by":"publisher","first-page":"1103","DOI":"10.1038\/ng.198","volume":"40","author":"S Hofmann","year":"2008","unstructured":"Hofmann S, Franke A, Fischer A, Jacobs G, Nothnagel M, Gaede KI, et al. Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis. Nat Genet. 2008;40(9):1103\u20136.","journal-title":"Nat Genet"},{"key":"1691_CR6","unstructured":"R Core Development Team. R: a language and environment for statistical computing. R Foundation for Statistical Computing, Vienna, Austria 2019."},{"issue":"2","key":"1691_CR7","first-page":"102","volume":"33","author":"H Zhou","year":"2016","unstructured":"Zhou H, Diao M, Zhang M. The association between ANXA11 gene polymorphisms and sarcoidosis: a meta-analysis and systematic review. Sarcoidosis Vasc Diffuse Lung Dis. 2016;33(2):102\u201311.","journal-title":"Sarcoidosis Vasc Diffuse Lung Dis"},{"issue":"6","key":"1691_CR8","doi-asserted-by":"publisher","first-page":"480","DOI":"10.1111\/j.1399-0039.2007.00944.x","volume":"70","author":"H Sato","year":"2007","unstructured":"Sato H, Spagnolo P, Silveira L, Welsh KI, du Bois RM, Newman LS, et al. BTNL2 allele associations with chronic beryllium disease in HLA-DPB1*Glu69-negative individuals. Tissue Antigens. 2007;70(6):480\u20136.","journal-title":"Tissue Antigens"},{"issue":"5","key":"1691_CR9","first-page":"476","volume":"22","author":"CE Broos","year":"2016","unstructured":"Broos CE, Hendriks RW, Kool M. T-cell immunology in sarcoidosis: Disruption of a delicate balance between helper and regulatory T-cells. CurrOpinPulm Med. 2016;22(5):476\u201383.","journal-title":"CurrOpinPulm Med"}],"container-title":["Respiratory Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12931-021-01691-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12931-021-01691-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12931-021-01691-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,16]],"date-time":"2021-04-16T11:37:12Z","timestamp":1618573032000},"score":1,"resource":{"primary":{"URL":"https:\/\/respiratory-research.biomedcentral.com\/articles\/10.1186\/s12931-021-01691-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,16]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["1691"],"URL":"https:\/\/doi.org\/10.1186\/s12931-021-01691-2","relation":{},"ISSN":["1465-993X"],"issn-type":[{"value":"1465-993X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4,16]]},"assertion":[{"value":"14 December 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 March 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 April 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The main ethical approval was obtained by the Ethic Committee of the University of Freiburg, Germany, No. 80\/04. All participants gave informed consent to data analyses including genetic analyses, when they agreed to the source studies.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent for participation"}},{"value":"All participants gave informed consent to participate at the soruce studies. The manuscript does not contain any individual details of participants.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"BCF received speaker and consultant fees by Actelion, Boehringer Ingelheim, Novartis and Roche outside the submitted work. BCF acts as a consultant to and is shareholder of Advita Lifescience GmbH. KIG indicates funding of the German Research Counsil (DFG) related to project. CS has nothing to disclose. MDR has nothing to disclose. DSM acts as a consultant to, receives royalities from and owns options of Omixon. KDR has nothing to disclose.CSR has nothing to disclose. AW has nothing to disclose. RW has nothing to disclose. RN has nothing to disclose. GZ has nothing to disclose. StSch has nothing to disclose. MN has nothing to disclose. JMQ reports personal fees from Novartis, personal fees from Roche, personal fees and other from Advita Lifescience GmbH, outside the submitted work","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"107"}}