Department of Mathematics, Imperial College London, London, UK.
Neuroimage. 2011 Jan 15;54(2):992-1000. doi: 10.1016/j.neuroimage.2010.08.049. Epub 2010 Sep 20.
Voxel-wise statistical inference is commonly used to identify significant experimental effects or group differences in both functional and structural studies of the living brain. Tests based on the size of spatially extended clusters of contiguous suprathreshold voxels are also widely used due to their typically increased statistical power. In "imaging genetics", such tests are used to identify regions of the brain that are associated with genetic variation. However, concerns have been raised about the adequate control of rejection rates in studies of this type. A previous study tested the effect of a set of 'null' SNPs on brain structure and function, and found that false positive rates were well-controlled. However, no similar analysis of false positive rates in an imaging genetic study using cluster size inference has yet been undertaken. We measured false positive rates in an investigation of the effect of 700 pre-selected null SNPs on grey matter volume using voxel-based morphometry (VBM). As VBM data exhibit spatially-varying smoothness, we used both non-stationary and stationary cluster size tests in our analysis. Image and genotype data on 181 subjects with mild cognitive impairment were obtained from the Alzheimer's Disease Neuroimaging Initiative (ADNI). At a nominal significance level of 5%, false positive rates were found to be well-controlled (3.9-5.6%), using a relatively high cluster-forming threshold, α(c)=0.001, on images smoothed with a 12 mm Gaussian kernel. Tests were however anticonservative at lower cluster-forming thresholds (α(c)=0.01, 0.05), and for images smoothed using a 6mm Gaussian kernel. Here false positive rates ranged from 9.8 to 67.6%. In a further analysis, false positive rates using simulated data were observed to be well-controlled across a wide range of conditions. While motivated by imaging genetics, our findings apply to any VBM study, and suggest that parametric cluster size inference should only be used with high cluster-forming thresholds and smoothness. We would advocate the use of nonparametric methods in other cases.
体素-wise 统计推断常用于识别活体大脑的功能和结构研究中的显著实验效应或组间差异。基于空间扩展的连续超阈值体素簇大小的测试也由于其通常增加的统计功效而被广泛使用。在“影像遗传学”中,此类测试用于识别与遗传变异相关的大脑区域。然而,人们对这类研究中拒绝率的充分控制提出了担忧。先前的一项研究测试了一组“无效”单核苷酸多态性(SNP)对大脑结构和功能的影响,发现假阳性率得到了很好的控制。然而,在使用簇大小推断的影像遗传学研究中,尚未进行类似的假阳性率分析。我们使用基于体素的形态计量学(VBM)测量了对 700 个预先选择的无效 SNP 对灰质体积影响的研究中的假阳性率。由于 VBM 数据表现出空间变化的平滑性,我们在分析中同时使用了非平稳和平稳的簇大小测试。我们从阿尔茨海默病神经影像学倡议(ADNI)获得了 181 名轻度认知障碍患者的图像和基因型数据。在名义显著性水平为 5%的情况下,使用相对较高的簇形成阈值(α(c)=0.001),对用 12mm 高斯核平滑的图像进行分析,发现假阳性率得到了很好的控制(3.9-5.6%)。然而,在较低的簇形成阈值(α(c)=0.01、0.05)和使用 6mm 高斯核平滑的图像中,测试结果则偏保守。在这里,假阳性率范围从 9.8%到 67.6%。在进一步的分析中,观察到使用模拟数据的假阳性率在广泛的条件下得到了很好的控制。虽然受到影像遗传学的启发,但我们的发现适用于任何 VBM 研究,并表明参数簇大小推断仅应与高簇形成阈值和平滑度一起使用。在其他情况下,我们会提倡使用非参数方法。