Jin Ping, Panelli Monica C, Marincola Francesco M, Wang Ena
Immunogenetics Section, Department of Transfusion Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA.
Immunol Res. 2004;30(2):181-90. doi: 10.1385/IR:30:2:181.
Human cancer is an unpredictable disease as is its response to therapy. The intrinsic genetic heterogeneity and instability of cancer cells could in part explain such behavior. However, it is possible that, individual variation in the genetic make-up of humans may affect the relationship between host and cancer cells and, therefore, be, at least in part responsible for this extraordinary variation. Human gene polymorphism has been shown indeed to play a role in immune responses; among the immune-related genes, cytokines are often polymorphic. Some polymorphisms of cytokine and cytokine receptor may have direct functional significance by altering directly and indirectly the level of gene expression and/or its function; other may only demarcate a genetic linkage to a particular haplotype associated with a given clinical condition. The majority of polymorphisms found in cytokines or their receptors are located in the promoter, intronic and 3' untranslated regions. These sequence variations can still affect gene expression and function. In this review will we summarize the current knowledge about the role of cytokine polymorphism in disease and more specifically in cancer.
人类癌症是一种不可预测的疾病,其对治疗的反应亦是如此。癌细胞固有的基因异质性和不稳定性可以部分解释这种行为。然而,人类基因构成的个体差异可能会影响宿主与癌细胞之间的关系,因此,至少在一定程度上导致了这种异常的差异。人类基因多态性确实已被证明在免疫反应中起作用;在免疫相关基因中,细胞因子通常具有多态性。细胞因子和细胞因子受体的一些多态性可能通过直接或间接改变基因表达水平和/或其功能而具有直接的功能意义;其他多态性可能仅划定与特定单倍型的遗传连锁,该单倍型与特定临床状况相关。在细胞因子或其受体中发现的大多数多态性位于启动子、内含子和3'非翻译区。这些序列变异仍可影响基因表达和功能。在本综述中,我们将总结关于细胞因子多态性在疾病尤其是癌症中作用的当前知识。