Objective To analyze the relationship of human leukocyte antigen alleles (HLA-A/B, HLA-DRB/DQB) polymorphism and Eales disease, tuberculosis infection in a Han population in Zunyi city of China. Methods The subjects were analyzed by case control study, which consisted of three groups including Eales disease group (47 patients), pulmonary tuberculosis group (36 patients) and normal control group (100 healthy people). Thirty-nine patients in Eales disease group who had complete history were divided into 4 subgroups according to the history and tuberculin PPD test. Twelve patients with past or present pulmonary tuberculosis were in group A, 27 patients without pulmonary tuberculosis were in group B, 27 patients with positive PPD test were in group C, and 12 patients with negative PPD test were in group D. Fifty-nine alleles of HLA-A/B and HLA-DRB/DQB were analyzed by polymerase chain reaction with sequencespecific primers (PCR-SSP) in all subjects. Odds ratios between each group (OR) and 95% confidence interval (CI) were calculated; Frequency distribution of HLA-A02 gene were analyzed for the group A and the TB group. Results The frequency distribution of HLA-A02 （OR=9.719, OR95% CI:4.377-21.580,P=0.000）and HLA-B07 （OR=11.605, OR95% CI:2.397-56.191,P=0.001）alleles in Eales disease group were obviously higher than that in normal control group, but frequency distribution of HLA-A11（OR=0.495, OR95% CI:0.245-1.000,P=0.048）in Eales disease group was obviously lower than that in normal control group. There was no significant difference in frequency distribution of HLA-A02, HLA-A11 and HLA-B07 alleles between groups A and B, and between groups C and D (P＞0.05). The distribution frequency of HLA-A02, HLA-A24, HLA-B07 and HLA-DRB16 alleles among Eales disease group, pulmonary tuberculosis group and control group was statistically different (P＜0.05). The frequency distribution of HLA-A24 alleles in pulmonary tuberculosis group was lower than that in Eales disease group （chi;2=7.289,P=0.007）, but the frequency distribution of HLA-A02 alleles had no significant difference (OR=0.515,P=0.202) between two groups. Conclusions The alleles of HLA-A02 and HLA-B07 may be genetic predisposing genes of Eales disease, but HLA-A11 alleles may be protective gene in population of Han nationality from Zunyi city. The alleles of HLA-DRB16 and HLA-A02 may be genetic predisposing genes of pulmonay tuberculosis. The alleles of HLA-A02 may be a common susceptible gene for Eales disease and pulmonary tuberculosis. HLA-A11 and HLA-A24 alleles were protective genes of Eales disease and pulmonary tuberculosis respectively.
Objective To investigate the genetic interaction of HLA-DQB1 promoter and coding alleles in the pathogenesis of Vogt-Koyanagi-Harada syndrome (VKH). Methods Eighty-eight Chinese Han patients with VKH and eighty-eight non-VKH normal controls were enrolled in this study. DNA was extracted from white blood cells of the subjects by phenolchloroform method. Thirteen alleles were genotyped by polymerase chain reaction-sequence-specific primers (PCR-SSP), polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and clone-sequencing was applied to determine the polymorphisms of the promoter and coding regions of HLA-DQB1 gene. Chromas and Bioedit software were used to analyze the sequences of the promoter of HLA-DQB1. Chi-square test and Fisher exact test were the statistical methods. Relationships among single nucleotide polymorphism (SNP) in the promoter and coding region were analyzed. Results Twelve of thirteen already known HLA-DQB1 alleles were genotyped by PCR-SSP in VKH patients. The most frequent allele in VKH patients was HLA-DQB10401 (0.318, 56∶176) which was significantly higher in patients than that in normal controls (0.045, 8∶176) (chi;2＝44.00, P＝0.000, OR＝9.8). So was for HLA-DQB10303 (0.068 vs. 0.006, chi;2＝9.67, P＝0.002, OR＝12.81). In contrast, the frequency of HLA-DQB10601 (0.017 vs.0.096, chi;2＝10.39, P＝0.001, OR＝0.16) and HLA-DQB10302 (0.062 vs. 0.193,chi;2＝13.48, P＝0.000, OR＝0.28) in VKH patients were significantly lower than normal controls. Twelve SNP were found in all subjects. The frequency of C allele at position -189C/A in VKH patients was significantly higher than that in controls (0.324 vs. 0.074, chi;2＝45.92, P＝0.000). However, the frequency of G allele at position -227G/A in VKH patients was significantly lower than that in the normal controls (0.011 vs. 0.108, chi;2＝15.63,P＝0.000). The frequency of combination of susceptible alleles in promoter and coding area （-189C and HLA-DQB10401） in VKH patients was statistically higher than that in controls, the frequency of combination of resistant alleles in control (-227G and HLA-DQB10601) was higher than that in VKH patients. Conclusions The specific interactions of SNP in the promoter and coding alleles of HLA-DQB1 are associated with the pathogenesis of VKH.
Objective To analyze the association between histocompatibility leukocyte antigen （HLA-A/B,HLA-DRB/DQB） alleles and Eales disease, and to explore susceptible genes and protective genes associated with Eales disease in a population of Han from ZUN YI city in Guizhou province. Methods The subjects were analyzed by casecontrol study consisted of two groups such as normal control group and Eales disease group. DNA samples from 100 healthy people and 26 patients with Eales disease were detected by polymeriase chain reaction with sequencespecific primers (PCR-SSP). The alleles of HLA-A/B and HLA-DRB/DQB from Eales disease group were compared with those from control group by SPSS 13.0. Results The distribution frequency in Eales disease was HLAA01(P=0.041, OR=20.5), A02(P=0.000, OR=54.667, OR 95%CI:11.837-252.473), B55 (P=0.047, OR=4.524; OR 95%CI:1.200-17.047), HLA-DRB01(P=0.048, OR=5.879, OR95%CI:1.227-28.169). DQB05 (P=0.021, OR=2.769, OR95%CI=1.145-6.692) alleles, and obviously higher than control, but the frequency of HLAA11 (P=0.031, OR=0.383, OR95%CI=0.158-0.930) was obviously lower than control (P＜0.05). Conclusion The results showed that the alleles of HLAA01, A02, B55, DRB01, DQB05 may associate with an antagonist effect in Eales disease, but HLAA11 may be a protective gene of this disease.
Objective To probe the association between HLA-B27 subtype and acute anterior uveitis(AAU). Methods The HLA-B27 gene of 49 AAu patients were inspected by means of polymerase chain reaction(PCR), and the B27 subtypes of AAU patients were analyzed by means of DNA sequencing and simulated nucleotide hybridization in computer. Results Twenty-nine(59.39%)of 49 AAU patients were B27 positive, and among them 13 (44.00%)were B2704 and 16(56.00%)B27052 in subtypes．No statistically significant difference in most clinical features were found between the patients with B2704 and B27052.In B27 pasitive patients,8 (seven is B27052 and one is B2704) of them were complicatde with ankylosing spondylitis(AS). Conclusions The AAU patients with either B2704 or B27052 have similar clinical feature.The B27052 gene may be an important factor for complicated AS in AAU patients. (Chin J Ocul Fundus Dis, 1999, 15: 139-142)