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在存在随机缺失数据的情况下检测基因和环境影响的统计功效。

Statistical power to detect genetic and environmental influences in the presence of data missing at random.

作者信息

Derks Eske M, Dolan Conor V, Boomsma Dorret I

机构信息

Department of Biological Psychology, Vrije Universiteit, Amsterdam, The Netherlands.

出版信息

Twin Res Hum Genet. 2007 Feb;10(1):159-67. doi: 10.1375/twin.10.1.159.

Abstract

We study the situation in which a cheap measure (X) is observed in a large, representative twin sample, and a more expensive measure (Y) is observed in a selected subsample. The aim of this study is to investigate the optimal selection design in terms of the statistical power to detect genetic and environmental influences on the variance of Y and on the covariance of X and Y. Data were simulated for 4000 dizygotic and 2000 monozygotic twins. Missingness (87% vs. 97%) was then introduced in accordance with 7 selection designs: (i) concordant low + individual high design; (ii) extreme concordant design; (iii) extreme concordant and discordant design (EDAC); (iv) extreme discordant design; (v) individual score selection design; (vi) selection of an optimal number of MZ and DZ twins; and (vii) missing completely at random. The statistical power to detect the influence of additive and dominant genetic and shared environmental effects on the variance of Y and on the covariance between X and Y was investigated. The best selection design is the individual score selection design. The power to detect additive genetic effects is high irrespective of the percentage of missingness or selection design. The power to detect shared environmental effects is acceptable when the percentage of missingness is 87%, but is low when the percentage of missingness is 97%, except for the individual score selection design, in which the power remains acceptable. The power to detect D is low, irrespective of selection design or percentage of missingness. The individual score selection design is therefore the best design for detecting genetic and environmental influences on the variance of Y and on the covariance of X and Y. However, the EDAC design may be preferred when an additional purpose of a study is to detect quantitative trait loci effects.

摘要

我们研究了这样一种情况

在一个规模大且具代表性的双胞胎样本中观测到一个成本较低的测量指标(X),而在一个选定的子样本中观测到一个成本较高的测量指标(Y)。本研究的目的是根据检测基因和环境对Y的方差以及X与Y的协方差影响的统计功效,来探究最优选择设计。对4000对异卵双胞胎和2000对同卵双胞胎的数据进行了模拟。然后根据7种选择设计引入缺失值(分别为87%和97%):(i)一致低 + 个体高设计;(ii)极端一致设计;(iii)极端一致和不一致设计(EDAC);(iv)极端不一致设计;(v)个体得分选择设计;(vi)选择最优数量的同卵和异卵双胞胎;以及(vii)完全随机缺失。研究了检测加性和显性遗传效应以及共享环境效应对Y的方差和X与Y之间协方差影响的统计功效。最佳选择设计是个体得分选择设计。无论缺失值百分比或选择设计如何,检测加性遗传效应的功效都很高。当缺失值百分比为87%时,检测共享环境效应的功效是可接受的,但当缺失值百分比为97%时,除个体得分选择设计中功效仍可接受外,该功效较低。无论选择设计或缺失值百分比如何,检测显性效应的功效都较低。因此,个体得分选择设计是检测基因和环境对Y的方差以及X与Y的协方差影响的最佳设计。然而,当研究的另一个目的是检测数量性状位点效应时,EDAC设计可能更受青睐。

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