突触小体相关蛋白-25基因多态性与精神分裂症相关研究

目的 研究突触小体相关蛋白-25(SNAP-25)基因3端翻译区单核苷酸多态性(SNP)位点rs8636与精神分裂症的关系.方法 采用聚合酶连反应-限制性片段长度多态性技术,检测300例精神分裂症患者(患者组)和300例正常对照(对照组)的基因型及基因频率.分析SNAP-25基因多态性与精神分裂症的相关性.结果 ①患者组与对照组rs8636多态性位点的等位基因和基因型的频数分布均符合Hardy-Weinberg平衡检验(X~2=2.69,v=1,P＞0.05;X~2=2.52,v=1,P＞0.05).②患者组与对照组SNAP-25基因rs8636多态性位点的基因型和等位基因频率的总体分布差异有统计学意义(X~2=6.454,P＜0.05;X~2=7.033,P＜0.05);③患者组C/C基因型频率(65.0%)和C等位基因频率(79.7%)高于对照组,差异有统计学意义(X~2=5.848,P＜0.05;OR=1.50);患者组T/T基因型频率(5.7%)略低于对照组,差异无统计学意义(X~2=2.453,P＞0.05).结论 SNAP-25基因rs8636多态性位点与精神分裂症可能存在关联.C/C基因型和C等位基因可能是精神分裂症发病的危险因素.

Association study of schizophrenia and synaptosomal-associated protein 25kDa gene polymorphism

Objective To investigate the relationship between single nucleotide polymorphism(rs8636)in synaptosomal-associated protein 25kDa gene(SNAP-25)and schizophrenia.Methods The genotypes and alleles in 300 patients with schizophrenia and 300 normal controls were examined with polymerase chain reaction and restriction fragment length polymorphism technique.Analyzed the association between schizophrenia and polymorphism of SNAP-25 gene.Results ①There was no deviation from Hardy-Weinberg disequilibrium for the frequency distribution of genotypes and alleles in the two groups(X~2=2.69，v=1，P＞0.05；X~2=2.52，v=1，P＞0.05).②There were significant differences in the frequencies of the genotypes and alleles between patients and controls(X~2=6.454，P＜0.05；X~2=7.033，P＜0.05).③The frequency of C/C genotype(65.0%)and C alleles (79.7%)in patients were higher than that in the controls(X~2=5.848，P＜0.05；OR=1.50).The frequency of T/T genotype(5.7%)in patients was lower than that in the controls(X~2=2.453，P＞0.05).Conclusion There is a relationship between rs8636 in SNAP-25 gene and schizophrenia.The genotype C/C and alleles C may be a risk factor to the pathogenesis of schizophrenia.