Sarcoidosis is associated with a truncating splice site mutation in BTNL2

  title={Sarcoidosis is associated with a truncating splice site mutation in BTNL2},
  author={Ruta Valentonyte and Jochen Hampe and Klaus Huse and Philip Rosenstiel and Mario Albrecht and Annette Stenzel and Marion Nagy and Karoline Iris Gaede and Andre Franke and Robert H{\"a}sler and Andreas Koch and Thomas Lengauer and Dirk Seegert and Norbert Reiling and Stefan Ehlers and Eberhard Schwinger and Matthias Platzer and Michael Krawczak and Joachim M{\"u}ller-Quernheim and Manfred Sch{\"u}rmann and Stefan Schreiber},
  journal={Nature Genetics},
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… CONTINUE READING
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