Lee Agatha D, Leporé Natasha, de Leeuw Jan, Brun Caroline C, Barysheva Marina, McMahon Katie L, de Zubicaray Greig I, Martin Nicholas G, Wright Margaret J, Thompson Paul M
Laboratory of Neuro Imaging, Department of Neurology, UCLA School of Medicine, Los Angeles, CA, USA.
Department of Radiology, Children's Hospital Los Angeles, University of Southern California, Los Angeles, CA, USA.
Proc IEEE Int Symp Biomed Imaging. 2010 Apr;2010:1157-1160. doi: 10.1109/ISBI.2010.5490199. Epub 2010 Jun 21.
Twin studies are a major research direction in imaging genetics, a new field, which combines algorithms from quantitative genetics and neuroimaging to assess genetic effects on the brain. In twin imaging studies, it is common to estimate the intraclass correlation (ICC), which measures the resemblance between twin pairs for a given phenotype. In this paper, we extend the commonly used Pearson correlation to a more appropriate definition, which uses restricted maximum likelihood methods (REML). We computed proportion of phenotypic variance due to additive (A) genetic factors, common (C) and unique (E) environmental factors using a new definition of the variance components in the diffusion tensor-valued signals. We applied our analysis to a dataset of Diffusion Tensor Images (DTI) from 25 identical and 25 fraternal twin pairs. Differences between the REML and Pearson estimators were plotted for different sample sizes, showing that the REML approach avoids severe biases when samples are smaller. Measures of genetic effects were computed for scalar and multivariate diffusion tensor derived measures including the geodesic anisotropy (tGA) and the full diffusion tensors (DT), revealing voxel-wise genetic contributions to brain fiber microstructure.
双胞胎研究是成像遗传学这一新兴领域的主要研究方向,该领域结合了数量遗传学和神经成像的算法,以评估基因对大脑的影响。在双胞胎成像研究中,估计组内相关系数(ICC)很常见,它衡量给定表型的双胞胎对之间的相似性。在本文中,我们将常用的皮尔逊相关性扩展为一个更合适的定义,该定义使用限制最大似然法(REML)。我们使用扩散张量值信号中方差成分的新定义,计算了由加性(A)遗传因素、共同(C)和独特(E)环境因素导致的表型方差比例。我们将分析应用于来自25对同卵双胞胎和25对异卵双胞胎的扩散张量图像(DTI)数据集。针对不同样本量绘制了REML和皮尔逊估计量之间的差异,结果表明当样本量较小时,REML方法可避免严重偏差。计算了标量和多变量扩散张量衍生测量的遗传效应量度,包括测地线各向异性(tGA)和全扩散张量(DT),揭示了体素水平上基因对脑纤维微观结构的贡献。