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泰国人群中 HLA-DRB5*01:01 对系统性红斑狼疮的遗传贡献。

The genetic contribution of HLA-DRB5*01:01 to systemic lupus erythematosus in Thailand.

机构信息

Division of Rheumatology, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

出版信息

Int J Immunogenet. 2013 Apr;40(2):126-30. doi: 10.1111/j.1744-313X.2012.01145.x. Epub 2012 Aug 3.

DOI:10.1111/j.1744-313X.2012.01145.x
PMID:22862923
Abstract

Human leucocyte antigen (HLA) study in patients with systemic lupus erythematosus (SLE) has been investigated in various countries, but the results are still inconclusive. This study was performed to investigate the association between HLA-DR and SLE in patients in northern Thailand. HLA-DR subtyping was performed in 70 patients with SLE and 99 normal healthy controls living in northern Thailand using the INNO-LiPA HLA-DR Decoder kit (Innogenetics) and MICRO SSP HLA DNA Typing kit (One Lambda) for reconfirmation. The allele frequency (AF) of DRB501:01 in SLE was significantly higher than in the controls [25.7% vs. 14.6%, P = 0.012, Pc = 0.048, OR = 2.02 (95%CI = 1.17-3.48)]. The AF of DRB115:01 and DRB116:02 showed a nonsignificant tendency to be higher in SLE (10.7% vs. 8.1%, and 17.9% vs. 11.1%). Interestingly, the DRB501:01 allele linked to DRB116:02 in 47.2% of SLE and 37.9% of controls, and the prevalence of the DRB116:02-DRB501:01 haplotype was higher in the patients with SLE [12.1% vs. 5.6%, P = 0.044, OR = 2.35 (95%CI = 1.06-5.19)]. The DRB116:02 linked to DRB502:02 and 02:03 in 18.2% and 31.8% of controls, respectively, and linked to DRB502:03 in 32.0% of SLE patients. The frequency of DRB103:01 and 15:02 alleles was not increased in Thai SLE. There was no significant association between DRB501:01 and any auto-antibodies or clinical manifestations of SLE. DRB501:01 is associated with Thai SLE, and the association is stronger than that of DRB115:01. The genetic contribution of DRB501:01 is due partially to the linkage disequilibrium between DRB116:02 and DRB5*01:01 in the northern Thai population.

摘要

人类白细胞抗原 (HLA) 在系统性红斑狼疮 (SLE) 患者中的研究已在多个国家进行,但结果仍不确定。本研究旨在探讨泰国北部患者中 HLA-DR 与 SLE 的相关性。使用 INNO-LiPA HLA-DR Decoder 试剂盒(Innogenetics)和 MICRO SSP HLA DNA Typing 试剂盒(One Lambda)对 70 例 SLE 患者和 99 例居住在泰国北部的正常健康对照者进行 HLA-DR 亚型分析,进行重新确认。SLE 患者的 DRB501:01 等位基因频率 (AF) 明显高于对照组[25.7%比 14.6%,P=0.012,Pc=0.048,OR=2.02(95%CI=1.17-3.48)]。DRB115:01 和 DRB116:02 的 AF 显示 SLE 中升高的趋势无统计学意义[10.7%比 8.1%,17.9%比 11.1%]。有趣的是,DRB501:01 等位基因与 SLE 中 47.2%和对照组中 37.9%的 DRB116:02 相关联,SLE 患者中 DRB116:02-DRB501:01 单倍型的患病率较高[12.1%比 5.6%,P=0.044,OR=2.35(95%CI=1.06-5.19)]。DRB116:02 分别与对照组中的 DRB502:02 和 02:03 相关联,频率为 18.2%和 31.8%,与 SLE 患者中的 DRB502:03 相关联,频率为 32.0%。泰国 SLE 患者中 DRB103:01 和 15:02 等位基因的频率没有增加。DRB501:01 与任何自身抗体或 SLE 的临床表现之间没有显著关联。DRB501:01 与泰国 SLE 相关联,其相关性强于 DRB115:01。DRB501:01 的遗传贡献部分归因于泰国北部人群中 DRB116:02 和 DRB5*01:01 之间的连锁不平衡。

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