定量计算已知易感变异对精神分裂症遗传度的解释度  

Quantitative evaluating the heritability explained by known susceptibility variants of schizophrenia

作　　者：李康[1,2] 许瑞环[2] 张洪德[2] 王前[1] 

机构地区：[1]南方医科大学南方医院检验医学中心,广州510515 [2]深圳市龙岗中心医院中心实验室

出　　处：《中国神经精神疾病杂志》2014年第8期449-453,共5页Chinese Journal of Nervous and Mental Diseases

基　　金：广东省科技厅科技计划项目(编号:2011B061200003)

摘　　要：目的评估已发现精神分裂症易感变异对精神分裂症遗传度的解释程度。方法查询美国国家人类基因组研究所(National Human Genome Research Institute,NHGRI)编制的全基因组关联研究(genome-wide as-sociation study,GWAS)目录,检索所有已发现的精神分裂症易感变异位点共347个,纳入其中已提供风险等位基因频率和比值比的62个位点,使用多因素易患性阈值模型计算每个易感变异对精神分裂症遗传度的解释度。结果已知的62个精神分裂症易感变异对精神分裂症遗传度的合计解释度为25.66%,尚有74.34%的遗传度无法被已知易感变异解释,属于遗传度缺失。结论已知精神分裂症易感变异对精神分裂症遗传度的解释度依然较低,表明精神分裂症尚存在许多未知的分子遗传学机制,有待进一步阐明。Objective To evaluate the heritability explanation degree of schizophrenia by all known susceptibility variants in schizophrenia. Methods The GWAS catalog of National Human Genome Research Institute （NHGRI） was queried to retrieve all the susceptible gene variations of schizophrenia. Sixty-two variants with risk allele frequency and odds ratio （OR ） were selected from 347 susceptible gene variants of schizophrenia. The heritability explanation degree of each susceptibility variants was calculated using the multifactorial liability threshold model. Results The total heritabili-ty explanation degree of schizophrenia by 62 known susceptible variants was 25.66%. In contrast, 74.34%of heritability, which could not be explained by known susceptibility variants, were then defined as the missing heritability of schizophre-nia. Conclusions The results demonstrate that the heritability explanation degree of schizophrenia by all known suscepti-bility variants in schizophrenia is low, indicating that there may be many unknown schizophrenia molecular genetic mech-anisms need to be further clarified.

关 键 词：精神分裂症 全基因组关联研究 单核苷酸多态性 

分 类 号：R749.3[医药卫生—神经病学与精神病学]