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Hampe, Jochen; Valentonyte, Ruta; Huse, Klaus; Rosenstiel, Philip; Albrecht, Mario; Stenzel, Annette; Nagy, Marion; Gaede, Karoline I; Franke, Andre; Haesler, Robert; Koch, Andreas; Lengauer, Thomas; Seegert, Dirk; Reiling, Norbert; Ehlers, Stefan; Schwinger, Eberhard; Platzer, Matthias; Krawczak, Michael; Müller-Quernheim, Joachim; Schürmann, Manfred; Schreiber, Stefan
Nature genetics, 04/2005, Letnik: 37, Številka: 4Journal Article
Sarcoidosis is a polygenic immune disorder with predominant manifestation in the lung. Genome-wide linkage analysis previously indicated that the extended major histocompatibility locus on chromosome 6p was linked to susceptibility to sarcoidosis. Here, we carried out a systematic three-stage SNP scan of 16.4 Mb on chromosome 6p21 in as many as 947 independent cases of familial and sporadic sarcoidosis and found that a 15-kb segment of the gene butyrophilin-like 2 (BTNL2) was associated with the disease. The primary disease-associated variant (rs2076530; P(TDT) = 3 x 10(-6), P(case-control) = 1.1 x 10(-8); replication P(TDT) = 0.0018, P(case-control) = 1.8 x 10(-6)) represents a risk factor that is independent of variation in HLA-DRB1. BTNL2 is a member of the immunoglobulin superfamily and has been implicated as a costimulatory molecule involved in T-cell activation on the basis of its homology to B7-1. The G --> A transition constituting rs2076530 leads to the use of a cryptic splice site located 4 bp upstream of the affected wild-type donor site. Transcripts of the risk-associated allele have a premature stop in the spliced mRNA. The resulting protein lacks the C-terminal IgC domain and transmembrane helix, thereby disrupting the membrane localization of the protein, as shown in experiments using green fluorescent protein and V5 fusion proteins.
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