{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T09:07:01Z","timestamp":1759482421421},"reference-count":45,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2006,3,9]],"date-time":"2006-03-09T00:00:00Z","timestamp":1141862400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genet"],"published-print":{"date-parts":[[2006,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Wegener granulomatosis (WG) belongs to the heterogeneous group of systemic vasculitides. The multifactorial pathophysiology of WG is supposedly caused by yet unknown environmental influence(s) on the basis of genetic predisposition. The presence of anti-neutrophil cytoplasmic antibodies (ANCA) in the plasma of patients and genetic involvement of the human leukocyte antigen system reflect an autoimmune background of the disease. Strong associations were revealed with WG by markers located in the major histocompatibility complex class II (MHC II) region in the vicinity of human leukocyte antigen (<jats:italic>HLA<\/jats:italic>)-<jats:italic>DPB1<\/jats:italic>and the<jats:italic>retinoid X receptor B<\/jats:italic>(<jats:italic>RXRB<\/jats:italic>) loci. In order to define the involvement of the 6p21.3 region in WG in more detail this previous population-based association study was expanded here to the respective 3.6 megabase encompassing this region on chromosome 6. The<jats:italic>RXRB<\/jats:italic>gene was analysed as well as a splice-site variation of the<jats:italic>butyrophilin-like<\/jats:italic>(<jats:italic>BTNL2<\/jats:italic>) gene which is also located within the respective region. The latter polymorphism has been evaluated here as it appears as a HLA independent susceptibility factor in another granulomatous disorder, sarcoidosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>150\u2013180 German WG patients and a corresponding cohort of healthy controls (n = 100\u2013261) were used in a two-step study. A panel of 94 microsatellites was designed for the initial step using a DNA pooling approach. Markers with significantly differing allele frequencies between patient and control pools were individually genotyped. The<jats:italic>RXRB<\/jats:italic>gene was analysed for single strand conformation polymorphisms (SSCP) and restriction fragment length polymorphisms (RFLP). The splice-site polymorphism in the<jats:italic>BTNL2<\/jats:italic>gene was also investigated by RFLP analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A previously investigated microsatellite (#1.0.3.7, Santa Cruz genome browser (UCSC) May 2004 Freeze localisation: chr6:31257596-34999883), which was used as a positive control, remained associated throughout the whole two-step approach. Yet, no additional evidence for association of other microsatellite markers was found in the entire investigated region. Analysis of the<jats:italic>RXRB<\/jats:italic>gene located in the WG associated region revealed associations of two variations (rs10548957 p<jats:sub>allelic<\/jats:sub>= 0.02 and rs6531 p<jats:sub>allelic<\/jats:sub>= 5.20 \u00d7 10<jats:sup>-5<\/jats:sup>, OR = 1.88). Several alleles of markers located between<jats:italic>HLA-DPB1<\/jats:italic>, SNP rs6531 and microsatellite 1.0.3.7 showed linkage disequilibrium with<jats:italic>r<\/jats:italic><jats:sup><jats:italic>2<\/jats:italic><\/jats:sup>values exceeding 0.10. Significant differences were not demonstrable for the sarcoidosis associated splice-site variation (rs2076530 p<jats:sub>allelic<\/jats:sub>= 0.80) in our WG cohort.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Since a microsatellite flanking the<jats:italic>RXRB<\/jats:italic>gene and two intragenic polymorphisms are associated significantly with WG on chromosome 6p21.3, further investigations should be focussed on extensive fine-mapping in this region by densely mapping with additional markers such as SNPs. This strategy may reveal even deeper insights into the genetic contributions of the respective region for the pathogenesis of WG.<\/jats:p><\/jats:sec>","DOI":"10.1186\/1471-2350-7-21","type":"journal-article","created":{"date-parts":[[2006,3,10]],"date-time":"2006-03-10T19:19:59Z","timestamp":1142018399000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["On the Wegener granulomatosis associated region on chromosome 6p21.3"],"prefix":"10.1186","volume":"7","author":[{"given":"Pawe\u0142","family":"Szyld","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Jagiello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Csernok","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang L","family":"Gross","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joerg T","family":"Epplen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2006,3,9]]},"reference":[{"issue":"2","key":"129_CR1","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1006\/jaut.1993.1021","volume":"6","author":"CO Savage","year":"1993","unstructured":"Savage CO, Cooke SP: The role of the endothelium in systemic vasculitis. 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