使用多因素易患性阈值模型评估双相情感障碍的遗传度缺失

发布时间：2018-09-14 15:29

【摘要】：为了评估双向情感障碍的遗传度缺失,文章通过查询美国国家人类基因组研究所(National Human Genome Research Institute,NHGRI)的gwascatalog目录,检索出所有已发现的双相情感障碍易感变异,使用多因素易患性阈值模型计算每个易感变异对双相情感障碍遗传度的解释度。将所有易感变异遗传度解释度求和得到双相情感障碍已知易感变异对遗传度的总解释度,使用此总解释度评估双相情感障碍的遗传度缺失。结果显示,已知双相情感障碍易感变异对双相情感障碍遗传度的合计解释度为38.34%,尚有61.66%的遗传度无法被已有易感变异解释,属于遗传度缺失。双相情感障碍38.34%的遗传度解释度较早前国外同类研究大幅度提高,表明随着新的双相情感障碍易感变异被不断发现,双相情感障碍遗传度缺失得到大幅度减小。但双相情感障碍遗传度缺失依然存在且数目较大的事实也表明双相情感障碍尚存在许多未知的分子遗传学机制有待进一步阐明。
[Abstract]:In order to evaluate the heritability loss of bidirectional affective disorder, we searched the gwascatalog catalogue of the National Institute of Human Genome Research (National Human Genome Research Institute,NHGRI) to find out all the known susceptibility variations of bipolar disorder. Multivariate susceptibility threshold model was used to calculate the heritability of each susceptibility variation to bipolar affective disorder. By summing up the heritability of all susceptibility variations, the total heritability of known susceptibility disorders was obtained, and the total heritability of bipolar affective disorders was evaluated by using this total interpretation. The results showed that the total explanation for the heritability of biphasic affective disorder was 38.34, and 61.66% of the heritability could not be explained by the predisposing variation, which belonged to the lack of heritability. The heritability of bipolar disorder (38.34%) was significantly higher than that of other similar studies, indicating that with the discovery of new susceptibility variation of bipolar disorder, the loss of heritability of bipolar disorder was greatly reduced. However, the fact that the heritability of bipolar disorder still exists and the number is large also indicates that there are still many unknown molecular genetic mechanisms of bipolar affective disorder that 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;深圳市龙岗中心医院检验科;
【基金】：广东省科技厅课题项目(编号:2011B061200003)资助
【分类号】：R749.4

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