Statistical methods to localize disease heritability and identify biological mechanisms

项目摘要/摘要 精神分裂症是一种精神病、慢性和致残性疾病，影响约1%的普通人群。 人口。确定有罹患这种疾病的风险的个体对于确定 预防性干预。到目前为止，对精神病发病风险的评估是基于 主要基于临床特征，其准确性对开发和 实施预防性干预措施。当基因突变时，对精神病风险的评估有所改善 风险是被考虑在内的。因此，开发强健的精神病遗传风险测量方法 在精神病风险评估方面提供了改进的可能性。基因组的最新成功- 精神分裂症的广泛相关性研究允许计算多基因风险分数， 反映了常见基因变异对疾病发展的累积影响，以及 相关表型。这项研究的目的是检查这种精神分裂症的表现。 多基因评分在精神疾病风险评估中的应用 以临床特征为基础的精神病。考试的范围将扩大到 非欧洲血统个体的遗传得分。这将改进我们的身份识别工具 因此，在不同人群中采取预防性干预措施。

PROJECT SUMMARY/ABSTRACT Schizophrenia is a psychotic, chronic and disabling disorder, affecting about 1% of the general population. Identifying individuals at risk for developing this disorder is crucial for establishing preventive interventions. So far, the assessment of risk of developing psychosis has been based primarily on clinical features, the accuracy of which is not optimal for development and implementation of preventive interventions. Evaluation of psychosis risk improves when genetic risk is taken into account. Thus, development of robust measure of genetic risk for psychosis offers a possibility of improvement in assessment of psychosis risk. Recent success of genome- wide association studies in schizophrenia allows the calculation of a polygenic risk score that reflects a cumulative impact of common genetic variants on the development of the disorder and related phenotypes. The aim of this study is to examine the performance of such schizophrenia polygenic score on evaluation of psychosis risk in a sample of individuals at high risk of developing psychosis based on clinical features. The examination will extend to the performance of the genetic score in individuals of non-European descent. This will advance our tools for identification of psychosis risk and, consequently, its preventive interventions in diverse populations.