核心家系5-羟色胺2A受体T102C多态性与精神分裂症的关联性

背景:精神分裂症是一种常见的病因未明的精神病,是世界各国重点研究课题,其遗传学尤其是分子遗传学研究近来较受瞩目,其中对相关候选功能基因的研究显示出较好的前景。目的:分析5-羟色胺2A受体基因多态性与精神分裂症的相关性。设计:以诊断为依据的病例观察,关联性分析。单位:新乡医学院第二附属医院及中原油田总医院13分院。对象:患者组为2003-08/2004-04在新乡医学院第二附属医院住院的精神分裂症先证者56例,父母组为患者组的健康双亲112名。方法:采用聚合酶链式反应方法(PCR-RFLP)对符合精神分裂症(CCMD-3)诊断标准的56个先证者及其父母组成的核心家系进行检测,并对5-羟色胺2A受体基因分型,精神分裂症的5-羟色胺2A受体T102C多态性运用传递不平衡(TDT)检验。主要观察指标:5-羟色胺2A受体基因的等位基因、基因型频率分布与H-W吻合度检验结果及5-羟色胺2A受体基因的分析结果。结果:56例患者及其父母112名全部采集到各项指标,均进入结果分析。①患者组与父母组的基因型频数差异无显著性意义(χ2=4.423,P=0.110),等位基因分布差异亦无显著性意义(χ2=1.147,P=0.563),Hardy-Weinberg平衡吻合度良好。②在56个家系中,采用传递不平衡检验考察39个父亲或母亲为杂合子基因型的核心家系的传递不平衡性,显示精神分裂症与5-羟色胺2A受体基因无显著关联(χ2=2.703,P=0.10)。结论:5-羟色胺2A受体基因T102C在中国汉族人群中与精神分裂症无关联。

Association between the serotonin receptor 2A T102C polymorphism and schizophrenia of nuclear family

BACKGROUND:Schizophrenia is a kind of psychosis which pathogenesis is unknown yet, and its pathogenesis is a key study theme all over the world. Recently it is concerned in genetic study, particularly in the molecular genetics. Among them, it shows a good prospect in researching the candidate functional gene. OBJECTIVE:To analyze the association between the T102C polymorphism of serotonin 2A (5-HT2A) receptor and schizophrenia. DESIGN: A diagnosis-based ease observation and association analysis. SETTING: Second Affiliated Hospital, Xinxiang Medical College and the 13 Branch of General Hospital of Zhongyuan Oil Field. PARTICIPANTS: In the patient group, there were 56 cases of schizophrenie probands, who were hospitalized in the Second Affiliated Hospital of Xinxiang Medical College from August 2003 to April 2004, and their healthy parents (n=112) were also enrolled as the parents group. METHODS:The nuclear family consisted of 56 probands, who met the diagnostic criteria of the third edition of Chinese Classification and diagnostic criteria of Mental Disorders (CCMD-3), and their parents were detected with polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP), the genotype and the T102C polymorphism of schizophrenic 5-HT2A receptor were detected with transmission disequilibrium test (TDT). MAIN OUTCOME MEASURES:The results of allele and genotypic frequency, and the goodness-of-fit for Hardy-Weinberg equilibrium of 5- HT2A receptor, as well as the TDT analytical results of 5-HT2A receptor gene, were observed. RESULTS:All the 56 patients and the 112 parents were involved in the analysis of results. ①No significant differences were found between the patient group and parents group in the genotypic frequencies (χ2 =4.423, P=0.110) and allele distribution (χ2=1.147, P=0.563), and there was a good goodness-of-fit for Hardy-Weinberg equilibrium. ② In the 56 families, the transmission disequilibrium of 39 nuclear families with paternal or maternal genotype of heterozygote detected by TDT showed no association between schizophrenia and 5-TH2A receptor gene (χ2=2.703, P=-0.10).CONCLUSION: There is no association between the 5-TH2A receptor gene T102C and schizophrenia in Chinese Han population.