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在 HLA - B27 阳性的日本人群中,TAP 基因多态性与强直性脊柱炎及急性前葡萄膜炎并发症无关。

TAP polymorphism is not associated with ankylosing spondylitis and complications with acute anterior uveitis in HLA-B27-positive Japanese.

作者信息

Konno Y, Numaga J, Mochizuki M, Mitsui H, Hirata R, Maeda H

机构信息

Department of Ophthalmology, School of Medicine, University of Tokyo, Japan.

出版信息

Tissue Antigens. 1998 Nov;52(5):478-83. doi: 10.1111/j.1399-0039.1998.tb03075.x.

Abstract

HLA-B27 is associated with the etiology of ankylosing spondylitis (AS) and acute anterior uveitis (AAU). Transporter associated with antigen processing (TAP) 1 and TAP2 polymorphism influences the range of peptide presented by HLA class I molecules. In this report, contribution of TAP polymorphism to the susceptibility to AS and AAU was studied in HLA-B27-positive Japanese individuals. Patients were classified into three groups: 16 AS patients, 14 AAU patients and 22 patients with both AS and AAU. Twelve HLA-B27-positive healthy individuals were included as a control. TAP polymorphism was detected by PCR-RFLP methods. Significant differences in frequencies of TAP1 alleles were not found between patient groups. None of the TAP2 frequencies showed increased or decreased frequencies compared with HLA-B27-positive healthy controls. In comparison with a random Japanese control, TAP2D allele frequency was significantly increased in the AAU group, but failed to reach a significant level in a group consisting of the AAU-only patients and the patients with both AS and AAU. All of the patient groups were noted to have a significantly increased prevalence of the TAP2H allele as compared to random controls; however, the higher frequency of this allele was detected in HLA-B27 healthy controls as well. These observations suggest a linkage disequilibrium between TAP2D, TAP2H and HLA-B27 in Japanese.

摘要

HLA - B27与强直性脊柱炎(AS)和急性前葡萄膜炎(AAU)的病因相关。抗原加工相关转运体(TAP)1和TAP2多态性影响HLA I类分子呈递的肽段范围。在本报告中,研究了TAP多态性对HLA - B27阳性日本个体患AS和AAU易感性的影响。患者被分为三组:16例AS患者、14例AAU患者以及14例同时患有AS和AAU的患者。纳入12名HLA - B27阳性健康个体作为对照。采用聚合酶链反应 - 限制性片段长度多态性(PCR - RFLP)方法检测TAP多态性。患者组之间未发现TAP1等位基因频率有显著差异。与HLA - B27阳性健康对照相比,TAP2的频率均未出现升高或降低。与随机选取的日本对照相比,AAU组中TAP2D等位基因频率显著升高,但在仅患AAU的患者和同时患有AS和AAU的患者组成的组中未达到显著水平。所有患者组中TAP2H等位基因的患病率均显著高于随机对照;然而,在HLA - B27阳性健康对照中也检测到该等位基因的较高频率。这些观察结果表明,在日本人中TAP2D、TAP2H与HLA - B27之间存在连锁不平衡。

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