PMID- 17610417
OWN - NLM
STAT- MEDLINE
DCOM- 20070824
LR  - 20220316
IS  - 0001-2815 (Print)
IS  - 0001-2815 (Linking)
VI  - 70
IP  - 2
DP  - 2007 Aug
TI  - Butyrophilin-like 2 gene is associated with ulcerative colitis in the Japanese 
      under strong linkage disequilibrium with HLA-DRB1*1502.
PG  - 128-35
AB  - The human leukocyte antigen (HLA) region has been implicated in the pathogenesis 
      of inflammatory bowel disease (IBD), which is classified into Crohn's disease 
      (CD) and ulcerative colitis (UC). Recently, an association between sarcoidosis 
      and the butyrophilin-like 2 (BTNL2) gene was reported. BTNL2 is located in the 
      HLA region and its messenger RNA is expressed most abundantly in the intestine. 
      In this study, we performed a case-control association study of BTNL2 in the 
      Japanese patients with IBD and performed linkage disequilibrium (LD) analysis 
      between BTNL2 and HLA-DRB1. We analyzed eight polymorphisms selected after direct 
      sequencing and found that none of the polymorphisms were associated with the 
      Japanese CD cohort. In contrast, five polymorphisms were significantly associated 
      with UC, especially three single nucleotide polymorphisms (BTNL2_19, BTNL2_22 and 
      BTNL2_23) were associated as a haplotype. The most frequent haplotype (GGC 
      haplotype) was a low-risk haplotype (P= 0.000052), whereas the other TCT 
      haplotype was a high-risk haplotype (P= 0.0000085). Among the eight 
      polymorphisms, the strongest association with UC was found in BTNL2_19 (OR = 
      1.92, P= 0.0000035). As expected, the BTNL2_19-T allele showed strong LD with 
      DRB1*1502 (D'= 0.92). When BTNL2_19 was tested as conditional on the DRB1*1502 
      carrier status, the significant association disappeared, suggesting that the 
      association was because of its strong LD with DRB1*1502. We conclude that BTNL2 
      does not contribute to the susceptibility to Japanese CD but is associated with 
      Japanese UC because of the strong LD with HLA-DRB1*1502. The strong LD between 
      BTNL2 and HLA-DRB1 raises another issue about the potential role of BTNL2 in 
      other diseases associated with HLA-DRB1.
FAU - Mochida, A
AU  - Mochida A
AD  - Division of Gastroenterology, Tohoku University Graduate School of Medicine, 
      Sendai, Japan. cdv89170@par.odn.ne.jp
FAU - Kinouchi, Y
AU  - Kinouchi Y
FAU - Negoro, K
AU  - Negoro K
FAU - Takahashi, S
AU  - Takahashi S
FAU - Takagi, S
AU  - Takagi S
FAU - Nomura, E
AU  - Nomura E
FAU - Kakuta, Y
AU  - Kakuta Y
FAU - Tosa, M
AU  - Tosa M
FAU - Shimosegawa, T
AU  - Shimosegawa T
LA  - eng
PT  - Journal Article
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*15 antigen)
RN  - 0 (Membrane Glycoproteins)
SB  - IM
MH  - Adult
MH  - Butyrophilins
MH  - Colitis, Ulcerative/*genetics/immunology
MH  - Female
MH  - *Genetic Predisposition to Disease
MH  - HLA-DR Antigens/*genetics
MH  - HLA-DRB1 Chains
MH  - Humans
MH  - Japan
MH  - *Linkage Disequilibrium
MH  - Male
MH  - Membrane Glycoproteins/*genetics
EDAT- 2007/07/06 09:00
MHDA- 2007/08/25 09:00
CRDT- 2007/07/06 09:00
PHST- 2007/07/06 09:00 [pubmed]
PHST- 2007/08/25 09:00 [medline]
PHST- 2007/07/06 09:00 [entrez]
AID - TAN866 [pii]
AID - 10.1111/j.1399-0039.2007.00866.x [doi]
PST - ppublish
SO  - Tissue Antigens. 2007 Aug;70(2):128-35. doi: 10.1111/j.1399-0039.2007.00866.x.