Abstract:

Objective To explore the potential associations of HLA-DQA1 and DQB1 alleles with systemic scleroderma （SSc） in Zhuang and Han nationalities in Guangxi Zhuang Autonomous Region. Methods Genomic DNA was extracted from the peripheral blood of SSc patients of Zhuang （n = 50） and Han （n = 50） nationality, normal controls of Zhuang （n = 100） and Han （n = 100） nationality in Guangxi Zhuang Autonomous Region. PCR with sequence-specific primers （PCR-SSP） was used to detect HLA-DQA1 and -DQB1 alleles in these subjects. Results There was a significant increase in the frequency of HLA-DQA1*0401, -DQB1*0501 and -DQB1*0601 alleles in the patients of Zhuang nationality （RR = 4.056, χ2 = 15.407, Pc = 0.001; RR = 4.472, χ2 = 10.653, Pc = 0.004; RR = 3.473, χ2 = 10.06, Pc = 0.008） compared with normal controls of Zhuang nationality, and in the frequency of HLA-DQA1*0401, DQA1*0601 and DQB1*0601 alleles in patients of Han nationality（RR = 9.333, χ2 = 8.371, Pc = 0.036; RR = 8.071, χ2 = 20.130, Pc = 0.000; RR = 3.764, χ2 = 10.755, Pc = 0.004） compared with normal controls of Han nationality. However, the frequency of HLA-DQA1*0201 allele was statistically lower in the patients of Zhuang and Han nationality than in the controls of corresponding nationality （χ2 = 13.583, Pc = 0.002; χ2 = 12.209, Pc = 0.004）. Conclusions HLA-DQA1*0401 and -DQB1*0601 may be susceptible genes for SSc in Zhuang and Han nationalities, HLA-DQB1*0501 for SSc in Zhuang nationality, and HLA-DQA1*0601 for SSc in Han nationality in Guangxi Zhuang Autonomous Region.

Key words: HLA-DQB1