HDAC8基因多态性与中国北方汉族精神分裂症的关联性分析

目的：探讨组蛋白去乙酰化酶8（HDAC8）4个标签SNPs（Tag SNPs）位点基因多态性与中国北方汉族人群精神分裂症的关联性，为精神分裂症的诊断和治疗提供理论依据。方法：以中国北方汉族精神分裂症患者及其健康父母双亲组成的208个核心家系(共计624例)作为研究对象，对HDAC8基因上的4个Tag SNPs位点（rs12690254、rs3012655、rs497551和rs544484）利用Sequenom Mass Array 质谱阵列技术进行基因型检测，应用遗传统计学方法对研究对象进行基于单倍型的单倍型相对风险分析(HHRR)和传递不平衡检验(TDT)。结果：HDAC8基因上的rs12690254、rs3012655、rs497551和rs544484 4个位点基因型在患者组和父母双亲组中频数分布均符合Hardy-Weinberg平衡定律(P>0.05)。HHRR分析，父母传递和未传递给患病子女的等位基因频数分布差异无统计学意义(P>0.05);TDT分析，HDAC8基因上rs12690254、rs3012655、rs497551和rs544484 4个位点杂合子父母双亲传递给患病子女的2个等位基因概率未偏离50%( P>0.05)。结论：中国北方汉族人群中HDAC8基因rs12690254、rs3012655、rs497551和rs544484位点基因多态性与精神分裂症可能无关联。

Association between HDAC8 gene polymorphism and schizophrenia in Han population from North China

Objective To investigate the genetic association between the polymorphisms of 4 Tag SNPs of hisone deacetylases 8(HDAC8)gene and schizophrenia in Han population from North China,and to provide theoretical basis for diagnosis and treatment of schizophrenia.Methods 208 pedigrees consisting of healthy fathers,mothers and affected offsprings with schizophrenia(624 cases) were selected and the gene types of 4 Tag SNPs sites(rs12690254,rs3012655,rs497551 and rs544484) of HDAC8 gene were detected by Sequenom Mass Array technology.Haplotype-based haplotype relative risk(HRR) analysis and transmission disequilibrium test(TDT) were used to analyze the genotype data.Results The genotypic frequencies of the rs12690254,rs3012655,rs497551 and rs544484 sites of HDAC8 gene deviated from Hardy-Weinberg equilibrium in both patient group and parents group(P<0.05).HHRR analysis did not show the allelic association with the HDAC8 gene(P>0.05);TDT analysis did not show preferential transmission of the four alleles(P>0.05).Conclusion There is no genetic association between the polymorphism of HDAC8 gene and schizophrenia in Han population from North China.