摘要
目的探讨肿瘤坏死因子α（tumor necrosis factora，TNF-α）基因启动子区-308G／A、-857C／T和-1031T／C位点，白细胞介素6（interleukin-6）基因启动子-174G／C和-572C／G多态性与精神分裂症发生的相关性。方法采用聚合酶链反应-限制性片段长度多态性分析方法检测346例精神分裂症患者、323名健康对照各个多态性位点的基因型，采用SPSS13．0进行统计学分析。结果TNF-α基因-857C／T位点的基因型及等位基因频率分布在精神分裂症组与正常对照组均存在统计学意义（P〈0．05），其中，-857T的等位基因的频率在精神分裂症组均显著高于对照组（χ^2=9．414，P=0．002，OR=1．511，95％CI：1．160～1．969）。-857C／T位点不同基因型患者之间的阳性和阴性症状量表总分及阴性症状差异存在显著性，且TT基因型的分值显著高于CC基因型（P〈0．05）。结论TNF-α基因-857C／T位点可能与精神分裂症的发病存在关联，其中，-857T等位基因可能是易感基因，并且-857C／T位点与阳性和阴性症状量表评分中阴性症状存在关联。
Objective To investigate the relationship between the -308G/A, -857C/T and -1031T/C of tumor necrosis factor a gene （TNF-α）, -174G/C and -572C/G of interleukin-6 gene （IL-6） polymorphisms and schizophrenia. Methods Genomic DNA was isolated from the venous blood leukocytes of 346 unrelated patients with schizophrenia and 323 healthy unrelated individuals （control group）. All of the polymorphisms were genotyped by PCR-restriction fragment length polymorphisms （PCR-RFLP）. Genotype and allele frequencies were analyzed by SPSS13. 0 software. Results There were significant differences in both allele and genotype frequencies of -857C/T of TNF-α gene between the schizophrenia and control groups （P〈0.05）. The allele T of -857C/T in schizophrenia group was significantly higher than that in control group （χ^2 =9. 414, P=0. 002, OR= 1. 511, 95%CI： 1. 160-1. 969）. In addition, there were significant differences in the positive and negative syndrome scale （PANSS） total score and negative symptoms between the patients with different -857C/T genotypes, and the negative symptom score of TT genotype was significantly higher than that of CC genotype （P〈0.05）. Conclusion There is an association between -857C/T of TNF-a gene and schizophrenia, individuals with T allele of -857C/T are susceptible to schizophrenia, and there is an association between -857C/T and negative symptom score.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2011年第4期427-431,共5页
Chinese Journal of Medical Genetics
基金
宁夏自然科学基金（NZ1087）
