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Abstract
Anti-glomerular basement membrane (GBM) disease, a rare autoimmune disorder, is associated
with HLA-DR15 genotype in Caucasian and Japanese populations. But the distribution
of HLA-DRB1 alleles in Chinese patients with anti-GBM disease and their association
with clinical characteristics of anti-GBM disease are to be determined. The present
study analyzed the HLA-DRB1 alleles by sequence based typing in 44 Chinese patients
with anti-GBM disease and 200 healthy controls. The effects of DRB1 alleles on susceptibility
to anti-GBM disease were examined by a relative predispositional effects (RPEs) method.
The clinical and pathological data of the patients were collected and analyzed. The
DRB1*1501 allele was significantly associated with anti-GBM disease (p=1.597 x 10(-7)).
The RPEs test also showed a significant increased frequency of DRB1*0404 in anti-GBM
disease (p=0.037). Interestingly, the patients with DRB1*1501 or 0404 had more crescent
formation in glomeruli than those without the two alleles (p=0.021). But the DRB1*0404
was rare in both patients and control groups, which indicates that the importance
of the *0404 allele is limited in anti-GBM disease. We conclude that the HLA-DRB1*1501
allele is a genetic marker for susceptibility to anti-GBM disease.