摘要目的 探讨HLA-DPA1和-DPB1基因多态性与南方汉族人群青光眼睫状体炎综合征(Posner-Schlossman syndrome,PSS)的相关性.方法 实验组为确诊为PSS的南方汉族患者100例,对照组为南方汉族健康志愿捐血者128名.应用测序分型法对全部血样进行HLA-DPA1和-DPB1基因第2外显子双向测序.用Assign 3.5 HLA测序分型软件判定等位基因型,比较实验组和对照组HLA-DPA1和-DPB1等位基因及单倍体的频率.结果 在实验组及对照组中分别检出6个及4个HLA-DPA1等位基因,实验组HLA-DPA1*02:01等位基因频率(4.5％)显著低于对照组(12.109％)(x2=8.124,P=0.004);实验组及对照组均分别检出16个HLA-DPB1等位基因,实验组HLA-DPB1*14:01及-DPB1*17 01等位基因频率均显著低于对照组(DPB1*14:01:1.00％ vs.4.688％,x2=5.130,P=0.024;DPB1*17:01:0％ vs.2.344％,x2=3.897,P=o.048);实验组及对照组DPA1-DPB1单倍体数量分别为23种及25种,实验组DPA1*02:01-DPB1*14:01及DPA1*02:01-DPB1*17:01单倍体的频率均显著低于对照组.结论 DPA1*02:01-DPB1*14:01及DPA1*02:01-DPB1 *17:01单倍体可能为南方汉族人群PSS发病的保护因素.

abstractsObjective To assess the association of HLA-DPA1 and-DPB1 polymorphisms with Posner-Schlossman syndrome (PSS) in southern Chinese Han population.Methods A total of 100 randomly selected PSS patients of southern Chinese Han origin were served as the experimental group,while 128 unrelated healthy blood donors of the same origin were served as the control group.All samples were subjected to sequencing-based typing (SBT) for exon 2 of HLA-DPA1 and-DPB1 loci in both directions.HLA genotype was assigned using an Assign 3.5 HLA SBT software.The allele frequencies and haplotype frequencies of HLA-DPA1 and-DPB1 of the two groups were compared.x2 test,P value and odds ratio (OR) value were calculated.Results Six HLA-DPA1 alleles in the experimental group and 4 HLA-DPA1 alleles in the healthy control group were identified.The allelic frequency for HLA-DPA1 * 02:01 in the experimental group was significantly lower than the control group (4.50％ vs.12.109％;x2=8.124,P=0.004).Sixteen HLA-DPB1 alleles were identified in both the experimental and control groups.The allelic frequencies for HLA-DPB1 * 14:01 and-DPB1 * 17:01 in the experimental group were significantly lower than those of the control group (DPB1 * 14:01:1.00％ vs.4.688％,x2 =5.130,P=0.024;DPB1 * 17:01:0 ％ vs.2.344 ％,x2 =3.897,P=0.048).The DPA1-DPB1 haplotypes for the experimental and control groups were 23 and 25,respectively.The haplotype frequencies for both DPA1 * 02:01-DPB1 * 14:01 and DPA1 * 02:01-DPB1 * 17:01 were significantly lower than those of the control group.Conclusion DPA1 * 02:01-DPB1 * 14:01 and DPA1 * 02:01-DPB1 * 17:01 haplotypes may provide considerable protection effect against PSS in the southern Chinese Han population.