Association of TAP1 and TAP2 with systemic sclerosis in Japanese.
OBJECTIVE
The contribution of polymorphism of transporter associated with antigen processing 1 and 2 (TAP1 and 2) alleles to the pathogenesis of Japanese SSc was studied.


METHODS
TAP1 and TAP2 typing was carried out in 55 Japanese SSc patients and 95 normal Japanese subjects by the PCR-RFLP (restriction fragment length polymorphism) method. HLA-DR typing and HLA DRB1*15, *16 and *08 genotyping were carried out by the PCR and the PCR-SSCP (single-stranded DNA conformation polymorphism) methods, respectively.


RESULTS
The frequencies of the TAP1A and TAP2A alleles were significantly increased in SSc with diffuse scleroderma (100%, p < 0.005; 80.0%, p < 0.001, respectively) and in SSc with antitopoisomerase 1 antibody (a-Scl-70), (93.2%, p = not significant (NS); 63.6%, p < 0.05). In contrast, the TAP1B allele was significantly decreased in diffuse scleroderma (0%, p < 0.005) and SSc with a-Scl-70 (4.5%, p < 0.05), and TAP2B was decreased in diffuse scleroderma (12.5%, p < 0.01).


CONCLUSIONS
Association analysis among TAP1A, TAP2A and DRB1*1502 indicated that increases in TAP1A and TAP2A were not primary, but were reflective of an increase in HLA DRB1*1502 in Japanese SSc patients with diffuse scleroderma and SSc with a-Scl-70.
Takeuchi
F
F
Department of Internal Medicine and Physical Therapy, Faculty of Medicine, University of Tokyo, Japan.
Kuwata
S
S
Nakano
K
K
Nabeta
H
H
Hong
G H
GH
Shibata
Y
Y
Tanimoto
K
K
Ito
K
K
D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000276:immunology; D000328:Adult; D000483:Alleles; D017951:Antigen Presentation; D001323:Autoantibodies; D005260:Female; D005838:Genotype; D006684:HLA-DR Antigens / Q000235:genetics* / Q000276:immunology; D059811:HLA-DRB1 Chains; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000276:immunology*; D012150:Polymorphism, Restriction Fragment Length; D012595:Scleroderma, Systemic / Q000145:classification / Q000209:etiology* / Q000276:immunology
D018528:ATP-Binding Cassette Transporters; D001323:Autoantibodies; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains