Extended genetic analysis of BTNL2 in sarcoidosis

BTNL2 is a member of the immunoglobulin gene superfamily and is related to CD80 and CD86 co-stimulatory receptors, although its exact function is mainly unknown. Several studies reported that a frequent single nucleotide polymorphism (SNP) in exon 5 of BTNL2, rs2076530, was found associated with the risk to develop sarcoidosis. Recently, two pioneering studies brought up the first detailed map of copy number variations (CNVs) in the human genome, that are deletions, insertions, or duplications of DNA segments ranging from kilobases to megabases in size. Since these changes frequently occur and can cause gain or…