PMID- 17493147
OWN - NLM
STAT- MEDLINE
DCOM- 20070711
LR  - 20220129
IS  - 0001-2815 (Print)
IS  - 0001-2815 (Linking)
VI  - 69
IP  - 3
DP  - 2007 Mar
TI  - Analysis of the BTNL2 truncating splice site mutation in tuberculosis, leprosy 
      and Crohn's disease.
PG  - 236-41
AB  - 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.
FAU - Johnson, C M
AU  - Johnson CM
AD  - Cambridge Institute for Medical Research, Wellcome Trust/MRC Building, 
      Addenbrooke's Hospital, Cambridge, UK.
FAU - Traherne, J A
AU  - Traherne JA
FAU - Jamieson, S E
AU  - Jamieson SE
FAU - Tremelling, M
AU  - Tremelling M
FAU - Bingham, S
AU  - Bingham S
FAU - Parkes, M
AU  - Parkes M
FAU - Blackwell, J M
AU  - Blackwell JM
FAU - Trowsdale, J
AU  - Trowsdale J
LA  - eng
GR  - G9800943/MRC_/Medical Research Council/United Kingdom
GR  - MC_U105630924/MRC_/Medical Research Council/United Kingdom
GR  - WT_/Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Multicenter Study
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Tissue Antigens
JT  - Tissue antigens
JID - 0331072
RN  - 0 (BTNL2 protein, human)
RN  - 0 (Butyrophilins)
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (HLA-DR Antigens)
RN  - 0 (Membrane Glycoproteins)
RN  - 0 (RNA Splice Sites)
SB  - IM
MH  - Alleles
MH  - Brazil
MH  - Butyrophilins
MH  - Chromosomes, Human, Pair 6/genetics
MH  - Crohn Disease/*genetics
MH  - Female
MH  - HLA-DQ Antigens/genetics
MH  - HLA-DR Antigens/genetics
MH  - Humans
MH  - Leprosy/*genetics
MH  - Linkage Disequilibrium
MH  - Male
MH  - Membrane Glycoproteins/*genetics
MH  - *Point Mutation
MH  - *Polymorphism, Single Nucleotide
MH  - RNA Splice Sites/*genetics
MH  - Tuberculosis/*genetics
MH  - United Kingdom
EDAT- 2007/05/12 09:00
MHDA- 2007/07/12 09:00
CRDT- 2007/05/12 09:00
PHST- 2007/05/12 09:00 [pubmed]
PHST- 2007/07/12 09:00 [medline]
PHST- 2007/05/12 09:00 [entrez]
AID - TAN795 [pii]
AID - 10.1111/j.1399-0039.2006.00795.x [doi]
PST - ppublish
SO  - Tissue Antigens. 2007 Mar;69(3):236-41. doi: 10.1111/j.1399-0039.2006.00795.x.