02501nas a2200433   4500000000100000008004100001260001300042653001200055653001100067653001800078653003100096653001800127653001100145653002000156653002000176653001100196653001200207653002700219653000900246653002700255653001900282653003600301653002100337653001700358653001900375100001600394700001700410700001700427700001700444700001400461700001300475700001800488700001600506245010400522300001100626490000700637520140900644022001402053       2007                            d  c2007 Mar10aAlleles10aBrazil10aButyrophilins10aChromosomes, Human, Pair 610aCrohn Disease10aFemale10aHLA-DQ Antigens10aHLA-DR Antigens10aHumans10aleprosy10aLinkage Disequilibrium10aMale10aMembrane Glycoproteins10aPoint Mutation10aPolymorphism, Single Nucleotide10aRNA Splice Sites10aTuberculosis10aUnited Kingdom1 aJohnson C M1 aTraherne J A1 aJamieson S E1 aTremelling M1 aBingham S1 aParkes M1 aBlackwell J M1 aTrowsdale J00aAnalysis of the BTNL2 truncating splice site mutation in tuberculosis, leprosy and Crohn's disease.  a236-410 v693 a<p>The region on chromosome 6 encoding the major histocompatibility complex (MHC) is associated with a number of autoimmune and infectious diseases. Primary susceptibility to many of these has been localized to a region containing the human leukocyte antigen (HLA)-DR and -DQ genes. A recent study of sarcoidosis has provided evidence of an independent effect, associated with a truncating single nucleotide polymorphism (SNP) of a nearby gene, BTNL2. This gene may encode an immune receptor involved in costimulation. Sarcoidosis, tuberculoid leprosy, tuberculosis (TB) and Crohn's disease all have similar immunological features, including a Th1 response with granuloma formation. In addition mycobacteria have been identified or suggested to be causative pathogens in such conditions. We genotyped the truncating BTNL2 SNP in 92 TB and 72 leprosy families from Brazil and carried out family-based association studies. We could not find evidence of overtransmission of the truncating allele in TB. There was an association with susceptibility to leprosy (P=0.04), however, this is most likely due to linkage disequilibrium with HLA-DR. We also genotyped 476 UK Caucasian cases of Crohn's disease with 760 geographically matched controls and found no evidence of a disease association. We conclude that the truncating BTNL2 SNP is not important in this group of Th1 dominated granulomatous diseases.</p>  a0001-2815