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First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis
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  1. Yun Li1,2,
  2. Stefan Pabst3,
  3. Christian Kubisch1,2,4,
  4. Christian Grohé3,5,
  5. Bernd Wollnik1,2,4
  1. 1Center for Molecular Medicine Cologne (CMMC), Germany
  2. 2Institute of Human Genetics, Germany
  3. 3Medizinische Klinik II, Rheinische-Friedrich-Wilhelms Universität Bonn, Germany
  4. 4Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Germany
  5. 5Pneumologische Klinik, Evangelische Lungenklinik, Berlin, Germany
  1. Correspondence to Bernd Wollnik, Center for Molecular Medicine Cologne (CMMC), Institute of Human Genetics, Kerpener Str. 34, 50931 Cologne, Germany; bwollnik{at}uni-koeln.de

https://doi.org/10.1136/thx.2010.138743

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    Sarcoidosis is an inflammatory disease characterised by the presence of granulomas that can affect the skin, lungs, heart, brain and nervous system, eyes and various other tissues and organs.1 The disease can present in an acute or subacute form and is often self-limiting, but in many cases it is chronic with variable disease activity over many years.2 A genetic association between sarcoidosis and a truncating splice-site mutation in the gene BTNL2 (butyrophilin-like 2, a member of the immunoglobulin gene family) has been confirmed in different studies and populations.3–5

    Very recently the first whole-genome association study (WGAS) reported a strong association …

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