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乳糜泻中的TAP1和TAP2基因多态性

TAP1 and TAP2 polymorphism in coeliac disease.

作者信息

Powis S H, Rosenberg W M, Hall M, Mockridge I, Tonks S, Ivinson A, Ciclitira P J, Jewell D P, Lanchbury J S, Bell J I

机构信息

Imperial Cancer Research Fund Laboratories, London, UK.

出版信息

Immunogenetics. 1993;38(5):345-50. doi: 10.1007/BF00210476.

Abstract

Coeliac disease is strongly associated with HLA-DQ2, but it is possible that additional major histocompatibility complex genes also confer disease susceptibility. Encoded close to HLA-DQ are two genes, TAP1 and TAP2, whose products are believed to transport antigenic peptides from the cytoplasm into the endoplasmic reticulum. Comparison of 81 coeliac disease patients with caucasoid controls revealed an increased frequency of the alleles TAP1A and TAP2A in the patient population. However, no significant difference was found when patients were compared with HLA-DR and -DQ matched controls, indicating linkage disequilibrium between TAP1A, TAP2A, and HLA-DQ2. The TAP gene products do not have a major influence on susceptibility or resistance to coeliac disease in a Northern European Caucasoid population.

摘要

乳糜泻与HLA - DQ2密切相关,但其他主要组织相容性复合体基因也可能赋予疾病易感性。在HLA - DQ附近编码的两个基因TAP1和TAP2,其产物被认为可将抗原肽从细胞质转运至内质网。对81名乳糜泻患者与高加索对照者进行比较发现,患者群体中TAP1A和TAP2A等位基因的频率增加。然而,当将患者与HLA - DR和 - DQ匹配的对照者进行比较时,未发现显著差异,这表明TAP1A、TAP2A与HLA - DQ2之间存在连锁不平衡。在北欧高加索人群中,TAP基因产物对乳糜泻的易感性或抗性没有主要影响。

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