通过保形分位数回归分析表观遗传时钟的不确定性

IF 1.7 4区 医学 Q3 GENETICS & HEREDITY
Yanping Li, Jaclyn M. Goodrich, Karen E. Peterson, Peter X.-K. Song, Lan Luo
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引用次数: 0

摘要

DNA甲基化(DNAm)是DNA的一种化学修饰,可以受到各种因素的影响,包括年龄、环境和生活方式。表观遗传时钟是一种基于dna水平测量生物年龄的预测工具。它可以让我们了解一个人的生理年龄,这可能与他们的实际年龄不同。这种差异被称为表观遗传年龄加速,可能反映了健康状况和患年龄相关疾病的风险。此外,表观遗传时钟被用于衰老研究,以评估抗衰老干预措施的有效性,并了解衰老和疾病的潜在机制。使用来自不同群体、组织和细胞类型的样本开发了各种表观遗传时钟,通常是通过训练具有弹性净惩罚的高维线性回归模型。虽然这些模型可以高精度地预测基于DNAm的平均生物年龄,但缺乏不确定性量化,这对于解释年龄估计的精度和临床决策至关重要。为了了解生物年龄时钟在其平均值之外的分布,我们提出了一种基于高维分位数回归和适形预测相结合的训练表观遗传时钟的通用管道,以有效地揭示群体异质性并构建预测区间。我们的方法产生了自适应的预测区间,不仅实现了名义覆盖率,而且考虑了个体之间的内在变异性。通过使用来自11个儿童DNAm数据集的728份血液样本收集的数据,我们发现基于分位数回归的预测区间比基于传统平均回归的表观遗传时钟的预测区间窄。这一观察结果表明,与现有的训练表观遗传时钟的管道相比,统计效率有所提高。此外,所得时间间隔与年龄加速具有同步变化模式,有效揭示了个体童年和青少年群体不同发育阶段年龄模式的细胞进化异质性。我们的研究结果表明,符合的高维分位数回归可以产生有效的预测区间,并揭示潜在的群体异质性。虽然我们的方法侧重于儿童生物衰老测量的分布,但它适用于更广泛的年龄组,以提高对表观遗传年龄超出平均值的理解。这个基于推理的工具箱可以为未来应用表观遗传干预治疗与年龄有关的疾病提供有价值的见解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Uncertainty Quantification in Epigenetic Clocks via Conformalized Quantile Regression

Uncertainty Quantification in Epigenetic Clocks via Conformalized Quantile Regression

DNA methylation (DNAm) is a chemical modification of DNA that can be influenced by various factors, including age, the environment, and lifestyle. An epigenetic clock is a predictive tool that measures biological age based on DNAm levels. It can provide insights into an individual's biological age, which may differ from their chronological age. This difference, known as the epigenetic age acceleration, may reflect health status and the risk for age-related diseases. Moreover, epigenetic clocks are used in studies of aging to assess the effectiveness of antiaging interventions and to understand the underlying mechanisms of aging and disease. Various epigenetic clocks have been developed using samples from different populations, tissues, and cell types, typically by training high-dimensional linear regression models with an elastic net penalty. While these models can predict mean biological age based on DNAm with high precision, there is a lack of uncertainty quantification which is important for interpreting the precision of age estimations and for clinical decision-making. To understand the distribution of a biological age clock beyond its mean, we propose a general pipeline for training epigenetic clocks, based on an integration of high-dimensional quantile regression and conformal prediction, to effectively reveal population heterogeneity and construct prediction intervals. Our approach produces adaptive prediction intervals not only achieving nominal coverage but also accounting for the inherent variability across individuals. By using the data collected from 728 blood samples in 11 DNAm data sets from children, we find that our quantile regression-based prediction intervals are narrower than those derived from conventional mean regression-based epigenetic clocks. This observation demonstrates an improved statistical efficiency over the existing pipeline for training epigenetic clocks. In addition, the resulting intervals have a synchronized varying pattern to age acceleration, effectively revealing cellular evolutionary heterogeneity in age patterns in different developmental stages during individual childhoods and adolescent cohort. Our findings suggest that conformalized high-dimensional quantile regression can produce valid prediction intervals and uncover underlying population heterogeneity. Although our methodology focuses on the distribution of measures of biological aging in children, it is applicable to a broader range of age groups to improve understanding of epigenetic age beyond the mean. This inference-based toolbox could provide valuable insights for future applications of epigenetic interventions for age-related diseases.

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来源期刊
Genetic Epidemiology
Genetic Epidemiology 医学-公共卫生、环境卫生与职业卫生
CiteScore
4.40
自引率
9.50%
发文量
49
审稿时长
6-12 weeks
期刊介绍: Genetic Epidemiology is a peer-reviewed journal for discussion of research on the genetic causes of the distribution of human traits in families and populations. Emphasis is placed on the relative contribution of genetic and environmental factors to human disease as revealed by genetic, epidemiological, and biologic investigations. Genetic Epidemiology primarily publishes papers in statistical genetics, a research field that is primarily concerned with development of statistical, bioinformatical, and computational models for analyzing genetic data. Incorporation of underlying biology and population genetics into conceptual models is favored. The Journal seeks original articles comprising either applied research or innovative statistical, mathematical, computational, or genomic methodologies that advance studies in genetic epidemiology. Other types of reports are encouraged, such as letters to the editor, topic reviews, and perspectives from other fields of research that will likely enrich the field of genetic epidemiology.
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