PMID- 19659809
OWN - NLM
STAT- MEDLINE
DCOM- 20091222
LR  - 20161125
IS  - 1399-0039 (Electronic)
IS  - 0001-2815 (Linking)
VI  - 74
IP  - 4
DP  - 2009 Oct
TI  - Confirmation of the novel association at the BTNL2 locus with ulcerative colitis.
PG  - 322-9
LID - 10.1111/j.1399-0039.2009.01314.x [doi]
AB  - Linkage in families and association in population case-control investigations 
      have clearly shown that genes within the major histocompatibility complex region 
      on chromosome 6p are relevant to the susceptibility and pathogenesis of 
      ulcerative colitis (UC) and Crohn's disease. However, identifying the causative 
      variants by fine mapping has not been conclusive. In this study using 58 single 
      nucleotide polymorphisms (SNPs) with 616 UC cases, there was significant 
      association with SNP rs2294881 of the (butyrophilin-like 2) BTNL2 gene with odds 
      ratio (OR) = 2.80, confidence interval (CI) = 1.62-4.84 and P = 5.69 x 10(-4) 
      (P(Bonferroni) = 3.3 x 10(-2)) and replication of SNP rs9268480. The missense SNP 
      rs2076523 (K196E) showed novel association with a subset of UC cases with 
      colectomy (n = 126), OR = 0.25, CI = 0.11-0.58 and P = 4.42 x 10(-4) 
      (P(Bonferroni) = 2.56 x 10(-2)). These three associated variants within the BTNL2 
      gene were neither in linkage disequilibrium with each other nor correlated with 
      the SNPs tagging the human leukocyte antigen (HLA)-DRB1*1502 and HLA-DRB1*0301 
      alleles.
FAU - Pathan, S
AU  - Pathan S
AD  - Department of Medicine, Wellcome Trust Centre for Human Genetics, University of 
      Oxford, Oxford, UK. pathan.saad@gmail.com
FAU - Gowdy, R E
AU  - Gowdy RE
FAU - Cooney, R
AU  - Cooney R
FAU - Beckly, J B
AU  - Beckly JB
FAU - Hancock, L
AU  - Hancock L
FAU - Guo, C
AU  - Guo C
FAU - Barrett, J C
AU  - Barrett JC
FAU - Morris, A
AU  - Morris A
FAU - Jewell, D P
AU  - Jewell DP
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20090729
PL  - England
TA  - Tissue Antigens
JT  - Tissue antigens
JID - 0331072
RN  - 0 (BTNL2 protein, human)
RN  - 0 (Butyrophilins)
RN  - 0 (HLA-DR Antigens)
RN  - 0 (HLA-DRB1 Chains)
RN  - 0 (HLA-DRB1*03:01 antigen)
RN  - 0 (Membrane Glycoproteins)
SB  - IM
MH  - Butyrophilins
MH  - Case-Control Studies
MH  - Cohort Studies
MH  - Colectomy
MH  - Colitis, Ulcerative/*genetics/pathology/surgery
MH  - Female
MH  - Genome-Wide Association Study
MH  - Genotype
MH  - HLA-DR Antigens/classification/genetics
MH  - HLA-DRB1 Chains
MH  - Haplotypes/*genetics
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Male
MH  - Membrane Glycoproteins/*genetics
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single Nucleotide/*genetics
EDAT- 2009/08/08 09:00
MHDA- 2009/12/23 06:00
CRDT- 2009/08/08 09:00
PHST- 2009/08/08 09:00 [entrez]
PHST- 2009/08/08 09:00 [pubmed]
PHST- 2009/12/23 06:00 [medline]
AID - TAN1314 [pii]
AID - 10.1111/j.1399-0039.2009.01314.x [doi]
PST - ppublish
SO  - Tissue Antigens. 2009 Oct;74(4):322-9. doi: 10.1111/j.1399-0039.2009.01314.x. 
      Epub 2009 Jul 29.