定量计算已知易感变异对精神分裂症遗传度的解释度

发布时间：2018-05-25 01:26

本文选题：精神分裂症 + 全基因组关联研究　；参考：《中国神经精神疾病杂志》2014年08期

【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。
[Abstract]:Objective to evaluate the explanation of susceptibility variation of schizophrenia to the heritability of schizophrenia. Methods A catalogue of genome-wide as-sociation studyGWASs, compiled by National Human Genome Research Institute NHGRI, was used to search for 347 allelic sites of susceptibility to schizophrenia. The multivariate susceptibility threshold model was used to calculate the heritability of schizophrenia by using the multivariate susceptibility threshold model, which included 62 loci that had provided the risk allele frequency and ratio. Results the total explanation of 62 known susceptibility variations to the heritability of schizophrenia was 25.66, and the heritability of 74.34% could not be explained by the known susceptibility variation. Conclusion the known susceptibility variation of schizophrenia is still low in explaining the heritability of schizophrenia, which indicates that there are still many unknown molecular genetic mechanisms in schizophrenia, which need to be further elucidated.
【作者单位】：南方医科大学南方医院检验医学中心;深圳市龙岗中心医院中心实验室;
【基金】：广东省科技厅科技计划项目(编号:2011B061200003)
【分类号】：R749.3

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