直接从汇总统计数据计算遗传风险评分及其在1型糖尿病中的应用。
Calculating genetic risk scores directly from summary statistics with an application to type 1 diabetes.
作者信息
Squires Steven, Weedon Michael N, Oram Richard A
机构信息
Clinical and Biomedical Sciences, University of Exeter, St Luke's Campus, Exeter, EX1 2LU, United Kingdom.
The Academic Renal Unit, Royal Devon University Healthcare Foundation Trust, Exeter, EX2 5DW, United Kingdom.
出版信息
Bioinform Adv. 2025 Jul 2;5(1):vbaf158. doi: 10.1093/bioadv/vbaf158. eCollection 2025.
MOTIVATION
Genetic risk scores (GRS) summarise genetic data into a single number and allow for discrimination between cases and controls. Many applications of GRSs would benefit from comparisons with multiple datasets to assess quality of the GRS across different groups. However, genetic data is often unavailable. If summary statistics of the genetic data could be used to calculate GRSs more comparisons could be made, potentially leading to improved research.
RESULTS
We present a methodology that utilises only summary statistics of genetic data to calculate GRSs with an example of a type 1 diabetes (T1D) GRS. An example on European populations of the mean T1D GRS for those calculated from genetic data and from summary statistics (our method) was 10.31 (10.12-10.48) and 10.38 (10.24-10.53), respectively. An example of a case-control set for T1D has an area under the receiver operating characteristic curve of 0.917 (0.903-0.93) for those calculated from genetic data and 0.914 (0.898-0.929) for those calculated from summary statistics.
AVAILABILITY
The code is available at https://github.com/stevensquires/simulating_genetic_risk_scores.
动机
遗传风险评分（GRS）将遗传数据汇总为一个单一数字，可用于区分病例和对照。GRS的许多应用将受益于与多个数据集的比较，以评估不同群体中GRS的质量。然而，遗传数据往往难以获取。如果能够使用遗传数据的汇总统计量来计算GRS，就可以进行更多比较，这可能会改进研究。
结果
我们提出了一种仅利用遗传数据汇总统计量来计算GRS的方法，并以1型糖尿病（T1D）GRS为例进行说明。在欧洲人群中，由遗传数据计算得到的T1D GRS均值示例为10.31（10.12 - 10.48），而通过汇总统计量（我们的方法）计算得到的均值示例为10.38（10.24 - 10.53）。对于T1D的一个病例对照集，由遗传数据计算得到的受试者工作特征曲线下面积为0.917（0.903 - 0.93），由汇总统计量计算得到的为0.914（0.898 - 0.929）。
可用性
代码可在https://github.com/stevensquires/simulating_genetic_risk_scores获取。
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