肿瘤坏死因子α基因多态性对肿瘤坏死因子α产生及疾病的影响。
Influence of TNFalpha gene polymorphisms on TNFalpha production and disease.
作者信息
Hajeer A H, Hutchinson I V
机构信息
ARC Epidemiology Unit, Department of Medicine and Immunology Research Group, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.
出版信息
Hum Immunol. 2001 Nov;62(11):1191-9. doi: 10.1016/s0198-8859(01)00322-6.
Tumor necrosis factor alpha (TNFalpha) is a potent inflammatory cytokine. In human, the TNFalpha gene is located within the highly polymorphic major histocompatibility complex (MHC) region on chromosome 6p21.3. TNF gene cluster contains many polymorphisms including microsatellites and single nucleotide polymorphisms (SNPs). Many of these polymorphisms were found to be in linkage disequilibrium with HLA class I and II alleles. Some of the TNFalpha gene polymorphisms were found to influence TNFalpha production in vitro, for example the -308 SNP. Many studies have shown that this SNP and others within the TNFalpha gene associate with different inflammatory conditions. Whether this phenomenon is due to the direct influence of the SNP in question and/or due to linkage disequilibrium with other polymorphisms within the TNFalpha gene or the HLA system is still controversial.
肿瘤坏死因子α（TNFα）是一种强效的炎性细胞因子。在人类中，TNFα基因位于6号染色体p21.3上高度多态性的主要组织相容性复合体（MHC）区域内。TNF基因簇包含许多多态性，包括微卫星和单核苷酸多态性（SNP）。这些多态性中有许多被发现与HLA I类和II类等位基因处于连锁不平衡状态。一些TNFα基因多态性被发现会影响体外TNFα的产生，例如-308 SNP。许多研究表明，该SNP以及TNFα基因内的其他SNP与不同的炎症状态相关。这种现象是由于所讨论的SNP的直接影响和/或由于与TNFα基因或HLA系统内的其他多态性的连锁不平衡所致，目前仍存在争议。
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