PMID- 10323341
OWN - NLM
STAT- MEDLINE
DCOM- 19990714
LR  - 20190826
IS  - 0001-2815 (Print)
IS  - 0001-2815 (Linking)
VI  - 53
IP  - 4 Pt 1
DP  - 1999 Apr
TI  - Contribution of TAP genes to genetic predisposition for diffuse panbronchiolitis.
PG  - 366-73
AB  - Diffuse panbronchiolitis is a chronic obstructive pulmonary disease found in 
      Asian populations. Although diffuse panbronchiolitis is considered to be a 
      multifactorial disease of unknown etiology, the disease susceptibility appears to 
      be determined by a genetic predisposition unique to Asians. An earlier study 
      showed that human leukocyte antigen (HLA)-B54 predominantly found in East Asians 
      was strongly associated with the disease. A possible interpretation of this 
      association is that the class I molecule or class I antigen presenting system is 
      directly involved in its pathogenesis. Recent observations in which impaired 
      expression of class I molecules causes a syndrome resembling diffuse 
      panbronchiolitis further prompted us to test this possibility. Genes of the 
      molecules implicated in the class I pathway, TAP1, TAP2 and LMP2, which are 
      located in the HLA region of the sixth chromosome were analyzed in 76 patients 
      with diffuse panbronchiolitis and 120 normal controls. The combination of Ala-665 
      and Gln-687 in exon 11 of the TAP2 gene was associated with the disease 
      (P=0.0028, Pc<0.05). Although this positive association might be partly explained 
      by linkage disequilibrium with HLA-B*5401, this TAP2 variation was associated 
      with the disease even in the B*5401-negative subgroup. On the other hand, the 
      His-60 substitution within the LMP2 gene exhibited a negative association with 
      the disease. This negative association, however, could be explained by a strong 
      linkage disequilibrium with HLA-B44 which showed a negative association with the 
      disease in the previous study. These results support the notion that diffuse 
      panbronchiolitis is influenced by genetic factors in the HLA region. Besides the 
      class I gene itself, genes relevant to the class I antigen presenting system 
      might contribute to its genetic predisposition.
FAU - Keicho, N
AU  - Keicho N
AD  - Department of Respiratory Medicine, University of Tokyo, Japan. 
      KEICHO-3Im@h.u.tokyo.ac.jp
FAU - Tokunaga, K
AU  - Tokunaga K
FAU - Nakata, K
AU  - Nakata K
FAU - Taguchi, Y
AU  - Taguchi Y
FAU - Azuma, A
AU  - Azuma A
FAU - Tanabe, K
AU  - Tanabe K
FAU - Matsushita, M
AU  - Matsushita M
FAU - Emi, M
AU  - Emi M
FAU - Ohishi, N
AU  - Ohishi N
FAU - Kudoh, S
AU  - Kudoh S
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Tissue Antigens
JT  - Tissue antigens
JID - 0331072
RN  - 0 (ATP Binding Cassette Transporter, Subfamily B, Member 2)
RN  - 0 (ATP Binding Cassette Transporter, Subfamily B, Member 3)
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - 0 (HLA-B Antigens)
RN  - 0 (Proteins)
RN  - 0 (TAP1 protein, human)
RN  - 144416-78-4 (LMP-2 protein)
RN  - 145892-13-3 (TAP2 protein, human)
RN  - EC 3.4.22.- (Cysteine Endopeptidases)
SB  - IM
MH  - ATP Binding Cassette Transporter, Subfamily B, Member 2
MH  - ATP Binding Cassette Transporter, Subfamily B, Member 3
MH  - ATP-Binding Cassette Transporters/*genetics
MH  - Alleles
MH  - Bronchiolitis/epidemiology/*genetics
MH  - *Cysteine Endopeptidases
MH  - Genetic Predisposition to Disease
MH  - HLA-B Antigens/*genetics
MH  - Humans
MH  - Japan/epidemiology
MH  - Polymorphism, Genetic
MH  - Proteins/*genetics
EDAT- 1999/05/14 00:00
MHDA- 1999/05/14 00:01
CRDT- 1999/05/14 00:00
PHST- 1999/05/14 00:00 [pubmed]
PHST- 1999/05/14 00:01 [medline]
PHST- 1999/05/14 00:00 [entrez]
AID - 10.1034/j.1399-0039.1999.530407.x [doi]
PST - ppublish
SO  - Tissue Antigens. 1999 Apr;53(4 Pt 1):366-73. doi: 
      10.1034/j.1399-0039.1999.530407.x.