Velastegui Erick, Vera Edwin, Vanden Berghe Wim, Muñoz Mindy S, Orellana-Manzano Andrea
Escuela Politécnica Nacional, Departamento de Ciencias de los Alimentos y Biotecnología, Facultad de Ingeniería Química y Agroindustria, Quito, Ecuador.
Epigenetic Signaling Lab, Faculty Biomedical Sciences, PPES, University of Antwerp, Antwerp, Belgium.
Front Genet. 2023 Jul 3;14:1206034. doi: 10.3389/fgene.2023.1206034. eCollection 2023.
HLA-C, a gene located within the major histocompatibility complex, has emerged as a prominent target in biomedical research due to its involvement in various diseases, including cancer and autoimmune disorders; even though its recent addition to the MHC, the interaction between HLA-C and KIR is crucial for immune responses, particularly in viral infections. This review provides an overview of the structure, origin, function, and pathological implications of HLA-C in the major histocompatibility complex. In the last decade, we systematically reviewed original publications from Pubmed, ScienceDirect, Scopus, and Google Scholar. Our findings reveal that genetic variations in HLA-C can determine susceptibility or resistance to certain diseases. However, the first four exons of HLA-C are particularly susceptible to epigenetic modifications, which can lead to gene silencing and alterations in immune function. These alterations can manifest in diseases such as alopecia areata and psoriasis and can also impact susceptibility to cancer and the effectiveness of cancer treatments. By comprehending the intricate interplay between genetic and epigenetic factors that regulate HLA-C expression, researchers may develop novel strategies for preventing and treating diseases associated with HLA-C dysregulation.
HLA - C是位于主要组织相容性复合体中的一个基因，由于其参与包括癌症和自身免疫性疾病在内的各种疾病，已成为生物医学研究中的一个重要靶点；尽管它最近才被纳入主要组织相容性复合体，但HLA - C与杀伤细胞免疫球蛋白样受体（KIR）之间的相互作用对免疫反应至关重要，尤其是在病毒感染中。本综述概述了HLA - C在主要组织相容性复合体中的结构、起源、功能和病理意义。在过去十年中，我们系统地回顾了来自PubMed、ScienceDirect、Scopus和谷歌学术的原始出版物。我们的研究结果表明，HLA - C的基因变异可以决定对某些疾病的易感性或抗性。然而，HLA - C的前四个外显子特别容易受到表观遗传修饰的影响，这可能导致基因沉默和免疫功能改变。这些改变可表现在斑秃和银屑病等疾病中，也会影响癌症易感性和癌症治疗效果。通过理解调节HLA - C表达的遗传和表观遗传因素之间的复杂相互作用，研究人员可能会开发出预防和治疗与HLA - C失调相关疾病的新策略。
