肿瘤坏死因子-α基因-308G/A多态性与精神分裂症的关联研究

目的 了解肿瘤坏死因子-α(TNF-α)基因-308G/A多态性、血清水平与广东地区精神分裂症的相关性.方法 用聚合酶链反应一限制性片段长度多态性技术检测155个核心家系精神分裂症患者及其父母外周血的TNF-α基因启动子区域-308G/A位点基因多态性;采用酶联免疫吸附法测定血清TNF-α水平.结果 TNF-α基因-308位点变异的G/A基因型频率在精神分裂症组中比父母对照组明显升高(27.1%;15.0%,P<0.01),血清TNF-α水平也显著高于对照组(197.3±83.4)pg/ml;(95.2±46.8)pg/ml,P<0.05)].结论 TNF-α基因-308位点G/A多态性和血清TNF-α水平增高与精神分裂症发生相关联,支持TNF-α基因是精神分裂症的候选基因.

Association analysis of tumor necrosis factor alpha promoter polymorphisms with schizophrenia

Objective To explore relationship of G308A polymorphism in the tumor necrosis factor a (TNF-α) gene and TNF-α serum level with schizophrenia. Methods The G308A polymorphism in TNFa was tested by PCR-based RFLP in 155 schizophrenic family trios from Guangdong Province by polymerase chain reaction and restriction fragment length polymorphism techniques, and level of TNF-alpha in serum by ELISA. Results Haplotype relative risk revealed that the transmitted A allelic frequency in patients was significantly higher than that in their parents (27.1% vs 15.0%, P< 0.01), and serum level of TNF-alpha in patients was also higher than that in their parents (197.3±83.4) pg/ml vs (95.2±46.8) pg/ml, P<0.05)]. Conclusions There is rela-tionship of the TNF-α promoter polymorphism at position -308 and TNF-α serum level with schizophrenia,indica- ting that it is the candidate gene of schizophrenia.