亲属对遗传相关性对单变量ACE模型性能的影响。

IF 1 4区 医学 Q4 GENETICS & HEREDITY Twin Research and Human Genetics Pub Date : 2023-10-06 DOI:10.1017/thg.2023.40
Xuanyu Lyu, S Mason Garrison
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引用次数: 0

摘要

目前的研究探讨了遗传相关性差异(ΔH)和样本量对非经典ACE模型性能的影响,重点是同性和异性双胞胎群体。ACE模型是一个统计模型,假设加性遗传因素(a)、常见环境因素(C)和特定(或非共享)环境因素加上测量误差(E)是表型个体差异的原因。通过扩展Visscher(2004)的最小二乘范式并进行模拟,我们说明了同性双胞胎(HSS)的遗传相关性如何影响加性遗传估计(A)的统计能力、基于AIC的模型性能和负估计的频率。我们发现,更大的HSS和样本量的增加与检测加性遗传成分的能力的提高、模型性能的提高以及负估计的减少呈正相关。我们还发现,将性别限制效应的常见环境相关性固定为.95的常见解决方案在大多数情况下会导致模型性能稍差。此外,负估计被证明是可能的,并不总是表明模型失败,而是有时指出低功率或模型错误。使用ΔH小于.5的亲属对的研究人员应该仔细考虑性能影响,并进行全面的功率分析。我们的发现为那些处理非亲属关系或无法获得智力的情况的人以及未来的研究领域提供了有价值的见解和实用指南。
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Effects of Genetic Relatedness of Kin Pairs on Univariate ACE Model Performance.

The current study explored the impact of genetic relatedness differences (ΔH) and sample size on the performance of nonclassical ACE models, with a focus on same-sex and opposite-sex twin groups. The ACE model is a statistical model that posits that additive genetic factors (A), common environmental factors (C), and specific (or nonshared) environmental factors plus measurement error (E) account for individual differences in a phenotype. By extending Visscher's (2004) least squares paradigm and conducting simulations, we illustrated how genetic relatedness of same-sex twins (HSS) influences the statistical power of additive genetic estimates (A), AIC-based model performance, and the frequency of negative estimates. We found that larger HSS and increased sample sizes were positively associated with increased power to detect additive genetic components and improved model performance, and reduction of negative estimates. We also found that the common solution of fixing the common environment correlation for sex-limited effects to .95 caused slightly worse model performance under most circumstances. Further, negative estimates were shown to be possible and were not always indicative of a failed model, but rather, they sometimes pointed to low power or model misspecification. Researchers using kin pairs with ΔH less than .5 should carefully consider performance implications and conduct comprehensive power analyses. Our findings provide valuable insights and practical guidelines for those working with nontwin kin pairs or situations where zygosity is unavailable, as well as areas for future research.

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来源期刊
Twin Research and Human Genetics
Twin Research and Human Genetics 医学-妇产科学
CiteScore
1.50
自引率
11.10%
发文量
37
审稿时长
6-12 weeks
期刊介绍: Twin Research and Human Genetics is the official journal of the International Society for Twin Studies. Twin Research and Human Genetics covers all areas of human genetics with an emphasis on twin studies, genetic epidemiology, psychiatric and behavioral genetics, and research on multiple births in the fields of epidemiology, genetics, endocrinology, fetal pathology, obstetrics and pediatrics. Through Twin Research and Human Genetics the society aims to publish the latest research developments in twin studies throughout the world.
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