组织细胞周期调节缺陷基因A型单核苷酸多态性与精神分裂症的关系

Association between single nucleotide polymorphism of HIR histone cell cycle regulation defective homolog A gene and schizophrenia

目的:探讨组织细胞周期调节缺陷基因A型(HIRA)单核苷酸多态性(SNP)与精神分裂症的关系。方法:在216个汉族精神分裂症核心家系中,以PCR和限制性片段长度多态(RFLP)方法对HIRA基因rs1473109(A/G碱基改变)SNP进行检测,应用基于家系的连锁不平衡方法分析基因型数据。结果:HIRA基因的rs1473109等位基因和基因型频数分布均符合Hardy-Weinberg平衡定律(P>0.05)。传递不平衡检验(TDT)显示HIRA基因rs1473109与精神分裂症无连锁及关联。HIRA基因的rs1473109位点基因型频数分布与精神分裂症的阳性症状中关系妄想、读心症和思维连贯性障碍有关联(χ2=9.310,υ=2,P=0.010;χ2=14.373,υ=2,P=0.001;χ2=11.067,υ=2,P=0.004)。结论:中国汉族精神分裂症患者HIRA基因本身或其附近的基因可能与精神分裂症阳性症状的发生有关。

Objective To investigate the association between schizophrenia and the single nucleotide polymorphism （SNP） of HIR histone cell cycle regulation defective homolog A （HIRA）. Methods PCR-restrictive fragment length polymorphism （PCR-RFLP） was used to examine the SNP of rs1473109 （A/G） of HIRA in 216 Han core family trios of schizophrenia. Data was analyzed using family based linkage disequilibrium. Results The distribution of allelic and genotypic frequencies of rs1473109 of HIRA didn＇t deviate from Hardy-Weinberg equilibrium. The result of TDT indicated that rs1473109 of HIRA gene had no association with schizophreaia. There were significant relationships between the distribution of genotypic frequency of rs1473109 of HIRA gene and delusion of observation （x^2 =9. 310, v=2, P=0. 010）, experience of being revealed （x^2 = 14. 373, v=2, P= 0. 001） and incoherence of thinking （x^2=11. 067, v=2, P=0. 004）. Conclusion As far as Chinese Han people with schizophrenia, HIRA itself or gene adjacent to it may be associated with some of positive symptoms in schizophrenia.