甲基化CpG结合蛋白-2基因多态性与女性精神分裂症患者的关联性研究

目的研究甲基化CpG结合蛋白-2（MeCP2）基因多态性与女性精神分裂症患者的关联性。方法采用基于质谱微阵列技术的基因多态性分析法对符合DSM-Ⅳ诊断标准的126例精神分裂症患者和144例正常对照组患者MeCP2基因上的4个SNP位点进行基因分型，用x。检验比较上述4个位点的基因型频率和等位基因频率的组间差异。结果MeCP2基因rsl616369位点G／A基因型分布频率（24-8％VS34．3％）组间差异有统计学意义（P〈0．05）；rs3027933位点G／C基因型分布频率（25．6％vs34．8％）组间差异有统计学意义（P〈0．05）；位点rs17435基因型．T／A分布频率（25．6％vs35．5％）组间差异有统计学意义（P〈0．05）；位点rs2239464基因型A／A分布频率（58．5％VS71.8％），组间差异有统计学意义（P〈0．05）；单体型GCCA分布频率在病例组为0．1581，在对照组为0．2389，组间差异有统计学意义（P〈0．05）。结论女性精神分裂症患者MeCP2基因的相关基因型可能跟精神分裂症发病有相关性，MeCP2基因可能是女性精神分裂症易感基因，单体型GCCA可能是女性精神分裂症发病的保护因素。

Association study of the gene MeCP2 polymorphisms with schizophrenia in female

Objective To explore the association of methyl-CpG-binding protein2 （MeCP2） polymor- phisms with female schizophrenia in Chinese Han population. Methods By using the technology based on micro- array Chip, gene polymorphism analysis of 4 locus located in the gene MeCP2 was performed in 126 schizophrenia patients fulfilled with DSM-IV-TR criteria for schizophrenia and in 144 healthy controls.Chi square test was used to compare the inter-group differences of genotypic and a11elic distribution. Haplotype case-control association analysis based on linkage disequilibrium was conducted using SNP stats online software after the data was screened .The significance of results was corrected by permutation test .Results To the point of Locus rs1616369 which located in Gene MeCP2,the distribution of the genotype G/A between two groups（24.8% vs 34.3%） reached significance （P〈0.05） ; rs3027933 ,genotype G/C（25.6% vs 34.8%）, P〈0.05 ; rs17435 ,genotype T/A（25.6% vs 35.5%）, P 〈0.05 ; rs2239464, genotype C/A （ 58.5% vs 71.8% ）, P〈 0.05. The distribution prevalence of Haplotype GCCA was0. 1581 in case group, and 0.2389 in control group, reached significant difference （P〈0.05）.Conclusion As to female MeCP2 gene, the genotype on the four locations might associate with the onset of schizophrenia, MeCP2 might be susceptibility gene of female schizophrenia. The Haplotype GCCA maybe the protective factor.