RGD Reference Report - Contribution of TAP genes to genetic predisposition for diffuse panbronchiolitis. - Rat Genome Database

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Contribution of TAP genes to genetic predisposition for diffuse panbronchiolitis.

Authors: Keicho, N  Tokunaga, K  Nakata, K  Taguchi, Y  Azuma, A  Tanabe, K  Matsushita, M  Emi, M  Ohishi, N  Kudoh, S 
Citation: Keicho N, etal., Tissue Antigens. 1999 Apr;53(4 Pt 1):366-73.
RGD ID: 5147847
Pubmed: PMID:10323341   (View Abstract at PubMed)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Diffuse Panbronchiolitis susceptibilityIAGP 5147847DNA:polymorphisms:exon:RGD 
Diffuse Panbronchiolitis susceptibilityISOTAP2 (Homo sapiens)5147847; 5147847DNA:polymorphisms:exon:RGD 

Objects Annotated

Genes (Rattus norvegicus)
Tap2  (transporter 2, ATP binding cassette subfamily B member)

Genes (Mus musculus)
Tap2  (transporter 2, ATP-binding cassette, sub-family B (MDR/TAP))

Genes (Homo sapiens)
TAP2  (transporter 2, ATP binding cassette subfamily B member)


Additional Information