将汇总统计从逻辑回归转化为责任量表:在遗传和环境风险评分中的应用。

IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Human Heredity Pub Date : 2018-01-01 Epub Date: 2019-03-13 DOI:10.1159/000495697
Alexandra C Gillett, Evangelos Vassos, Cathryn M Lewis
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引用次数: 21

摘要

目的:分层医学需要结合遗传和环境因素的疾病风险模型。这些可能结合了来自不同研究的估计,并且当新的估计可用时,模型必须易于更新。logit量表常用于遗传和环境关联研究;然而,责任量表用于多基因风险评分和遗传力测量,但跨研究组合参数需要一个共同的估计量表。方法:我们提出方程来近似logit量表和负债量表上的单变量效应大小估计之间的关系,允许模型参数在量表之间转换。结果:这些方程用于在责任量表上建立风险评分,使用最初在logit量表上估计的效应大小估计。这样的评分可以用于联合效应模型来估计疾病的风险,使用多基因风险评分和环境风险因素证明了这一点。结论:这种简单的方法允许在逻辑尺度和责任尺度之间转换模型参数,可能是将风险估计整合到综合风险模型中的关键工具,特别是对于具有环境和遗传风险因素的联合模型。
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Transforming Summary Statistics from Logistic Regression to the Liability Scale: Application to Genetic and Environmental Risk Scores.

Objective: Stratified medicine requires models of disease risk incorporating genetic and environmental factors. These may combine estimates from different studies, and the models must be easily updatable when new estimates become available. The logit scale is often used in genetic and environmental association studies; however, the liability scale is used for polygenic risk scores and measures of heritability, but combining parameters across studies requires a common scale for the estimates.

Methods: We present equations to approximate the relationship between univariate effect size estimates on the logit scale and the liability scale, allowing model parameters to be translated between scales.

Results: These equations are used to build a risk score on the liability scale, using effect size estimates originally estimated on the logit scale. Such a score can then be used in a joint effects model to estimate the risk of disease, and this is demonstrated for schizophrenia using a polygenic risk score and environmental risk factors.

Conclusion: This straightforward method allows the conversion of model parameters between the logit and liability scales and may be a key tool to integrate risk estimates into a comprehensive risk model, particularly for joint models with environmental and genetic risk factors.

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来源期刊
Human Heredity
Human Heredity 生物-遗传学
CiteScore
2.50
自引率
0.00%
发文量
12
审稿时长
>12 weeks
期刊介绍: Gathering original research reports and short communications from all over the world, ''Human Heredity'' is devoted to methodological and applied research on the genetics of human populations, association and linkage analysis, genetic mechanisms of disease, and new methods for statistical genetics, for example, analysis of rare variants and results from next generation sequencing. The value of this information to many branches of medicine is shown by the number of citations the journal receives in fields ranging from immunology and hematology to epidemiology and public health planning, and the fact that at least 50% of all ''Human Heredity'' papers are still cited more than 8 years after publication (according to ISI Journal Citation Reports). Special issues on methodological topics (such as ‘Consanguinity and Genomics’ in 2014; ‘Analyzing Rare Variants in Complex Diseases’ in 2012) or reviews of advances in particular fields (‘Genetic Diversity in European Populations: Evolutionary Evidence and Medical Implications’ in 2014; ‘Genes and the Environment in Obesity’ in 2013) are published every year. Renowned experts in the field are invited to contribute to these special issues.
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