DNA甲基转移酶3B基因在早发性精神分裂症发生过程中的作用研究

目的 探讨DNA甲基转移酶3B(DNA methyltransferase 3B,DNMT3B)基因在早发性精神分裂症发生过程中的作用.方法 采用TaqMan等位基因分型技术分析279例早发性精神分裂症患者和395名健康对照者DNMT3B基因rs6119954位点与早发性精神分裂症的关联,及其与发病年龄的关系、并调查患者母亲怀孕早期的环境因素,进一步分析DNMT3B基因与环境因素的交互作用.结果 患者组与对照组间DNM73B基因rs6119954位点的基因型频率差异具有统计学意义(x2=12.27,P＜0.01),患者组rs6119954G等位基因频率显著高于对照组(x2=12.76,P＜0.01);携带rs6119954G等位基因患者发病年龄明显早于不携带该等位基因患者(P=0.026);未发现DNMT3B基因与环境因素间存在交互作用.结论 DNMT3B基因与早发性精神分裂症显著关联,rs6119954位点可能是导致发病年龄提前的重要因素.

Association of DNA methyltransferase 3B gene polymorphism with early-onset schizophrenia

Objective To investigate the association of DNA methyltransferase 3B (DNMT3B)gene polymorphism with the development of early-onset schizophrenia. Methods A single nucleotide polymorphism (rs6119954) of DNMT3B gene was genotyped in 279 early-onset schizophrenic patients and 395 healthy controls, using TaqMan SNP Genotyping Assays. To detect the interaction between the DNMT3B gene and environmental factors, the prenatal information of the patients was collected. Results Genotype distribution of the rs6119954 locus was significantly different between patients and controls (x2=12.27,P＜0. 01). The frequency of the G allele of this locus was significantly higher in patients than in controls (x2 = 12. 76, P＜0. 01 ). The G allele was highly associated with an earlier age of onset (P=0. 026). No interaction between the DNMT3B gene and environmental factors was found. Conclusion DNMT3Bgene is associated with early-onset schizophrenia and rs6119954 may plays an important role in age of onset of schizophrenia.