Department of Microbiology and Immunology, College of Medicine, The Catholic University of Korea, Seoul 137-701, Korea.
Immune Netw. 2011 Dec;11(6):324-35. doi: 10.4110/in.2011.11.6.324. Epub 2011 Dec 31.
The human leukocyte antigen (HLA), the major histocompatibility complex (MHC) in humans has been known to reside on chromosome 6 and encodes cell-surface antigen-presenting proteins and many other proteins related to immune system function. The HLA is highly polymorphic and the most genetically variable coding loci in humans. In addition to a critical role in transplantation medicine, HLA and disease associations have been widely studied across the populations world-wide and are found to be important in prediction of disease susceptibility, resistance and of evolutionary maintenance of genetic diversity. Because recently developed molecular based HLA typing has several advantages like improved specimen stability and increased resolution of HLA types, the association between HLA alleles and a given disease could be more accurately quantified. Here, in this review, we have collected HLA association data on some autoimmune diseases, infectious diseases, cancers, drug responsiveness and other diseases with unknown etiology in Koreans and attempt to summarize some remarkable HLA alleles related with specific diseases.
人类白细胞抗原（HLA）是人类主要组织相容性复合体（MHC），已知位于 6 号染色体上，编码细胞表面抗原呈递蛋白和许多其他与免疫系统功能相关的蛋白质。HLA 高度多态性，是人类中遗传变异最大的编码基因座。除了在移植医学中具有重要作用外，HLA 与疾病的关联已在全球范围内的人群中进行了广泛研究，并且被发现对于疾病易感性、抗性和遗传多样性的进化维持具有重要意义。由于最近开发的基于分子的 HLA 分型具有一些优点，如改善了标本稳定性和提高了 HLA 类型的分辨率，因此 HLA 等位基因与特定疾病之间的关联可以更准确地量化。在这里，我们在本综述中收集了韩国一些自身免疫性疾病、传染病、癌症、药物反应性和其他病因不明疾病的 HLA 关联数据，并尝试总结一些与特定疾病相关的显著 HLA 等位基因。
