The Association Of Polymorphisms In The HLA-DQ Gene With Takayasu's Arteritis

BackgroundsTakayasu's arteritis (TA) is a chronic inflammatory arteritis affecting the aorta and its main branches, the etiology and pathogenesis is unknown, autoimmune progresses may play an important role. It has been associated with HLA gene in different popultions. In this study a population based case-control study was used to analyze the association of polymorphisms in the HLA-DQA1, DQB1 gene and DQA1 promoter (QAP) with the development of TA in Chinese Han population.MethodsWe selected I00 TA patients and 104 healthy control subjects without autoimmune disease in this study. Genotyping of polymorphisms in the coding region of HLA-DQA1, DQB1 gene were performed with polymerase chain reaction-sequence specific primer (PCR-SSP). Polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP), cloning and sequencing were used to screen the mutations in the promoter region ofHLA-DQA1 gene.ResultsThe frequency of DQA1~*0302/3 allele in TA patients was significantly lower than that in control subjects (12.5% vs 20.19%, P=0.036, OR=0.565, 95%CI 0.330-0.968). The frequency of QAP1.3 in TA patients was significantly lower than that in control subjects (5.0% vs 10.58%, P=0.036, OR=0.445, 95%CI 0.205-0.965). The frequency of DQB1~*0301/4 allele in TA patients was significantly higher than that in control subjects (28.0% vs 17.79%, P=0.014, OR=1.797, 95%CI 1.123-2.878). The frequency of DQB1~*0302, DQB1~*0603/8 in TA patients was significantly lower than that in control subjects (11.0% vs 18.3%, P=0.039, OR=0.553, 95%CI 0.314-0.973, 0.5% vs 4.3%, P=0.0202, OR=0.111, 95%CI 0.014-0.885). The haplotypes of DQA1~*0102-DQB1~*0301 showed significant risk to TA (5.0% vs 1.4%, P=0.041, OR=3.596, 95%CI 0.975-13.27). While DQA1~*0302-DQB1~*0401 haplotype had significant resistance to TA (0% vs 8%, P=0.0074). ConclusionsBoth the alleles of DQB1~*0301/4 and the haplotypes of DQA1~*0102-DQB1~*0301 are the genetic susceptible factors to TA. The alleles of DQA1~*0302/3, QAP1.3, DQB1~*0302, DQB1~*0603/8, haplotypes DQA1~*0302-DQB1~*0401 are the resistant factors to TA.