Analysis of the BTNL2 truncating splice site mutation in tuberculosis, leprosy and Crohn's disease.

TitleAnalysis of the BTNL2 truncating splice site mutation in tuberculosis, leprosy and Crohn's disease.
Publication TypeJournal Article
Year of Publication2007
AuthorsJohnson, CM, Traherne, JA, Jamieson, SE, Tremelling, M, Bingham, S, Parkes, M, Blackwell, JM, Trowsdale, J
JournalTissue Antigens
Date Published2007 Mar
KeywordsAlleles, Brazil, Butyrophilins, Chromosomes, Human, Pair 6, Crohn Disease, Female, HLA-DQ Antigens, HLA-DR Antigens, Humans, Leprosy, Linkage Disequilibrium, Male, Membrane Glycoproteins, Point Mutation, Polymorphism, Single Nucleotide, RNA Splice Sites, Tuberculosis, United Kingdom

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.

Alternate JournalTissue Antigens
Citation Key10.1111/j.1399-0039.2006.00795.x
PubMed ID17493147
Grant ListG9800943 / / Medical Research Council / United Kingdom
MC_U105630924 / / Medical Research Council / United Kingdom
/ / Wellcome Trust / United Kingdom