Zhang Dong, Shi Lin, Song Xiubao, Shi Changzheng, Sun Pan, Lou Wutao, Wang Defeng, Luo Liangping
Department of Medical Imaging Centre, the First Affiliated Hospital, Jinan University, Guangzhou 510630, China.
Research Centre for Medical Image Computing, Department of Imaging and Interventional Radiology, The Chinese University of Hong Kong, Hong Kong, China.
Quant Imaging Med Surg. 2019 Jun;9(6):1000-1013. doi: 10.21037/qims.2019.05.18.
Type 2 diabetes mellitus (T2DM) is characterized by notable familial aggregation involving common variants of many genes, and its heritability leads to a high prevalence in the siblings of affected individuals compared with the general population. Endophenotypes are objective, heritable, quantitative traits that appear to reflect the genetic risk for polygenic disorders at more biologically tractable levels. Based on a sibling pair design, we aimed to find the neuroimaging endophenotypes of T2DM and investigate the role of inherent neurological disorders in the pathogenesis and deterioration of T2DM.
Twenty-six pairs of diagnosed T2DM patients with unaffected siblings and 26 unrelated controls were included in this study. Both high-resolution structural MRI and three-dimensional pseudo-continuous arterial spin labelling (3D-pCASL) MRI data were acquired with a 3.0 T MRI system. Voxel-based morphometry (VBM) analysis was performed on the structural T1W images, and cerebral blood flow (CBF) maps were obtained. All data were processed with the SPM8 package under the MATLAB 7.6 operation environment.
The T2DM patients and their unaffected siblings shared significant atrophy in the right inferior/middle temporal gyrus, and left insula, in addition to elevated CBF in the right prefrontal lobe. Several regions with abnormal CBF in siblings, including the right inferior/middle temporal gyrus, left insula, left operculum, right supramarginal gyrus, right prefrontal lobe, and bilateral anterior cingulate cortex, also presented significant atrophy in T2DM patients.
The shared brain regions with grey matter (GM) loss and CBF increases may serve as neuroimaging endophenotypes of T2DM, and the regions with abnormal CBF in siblings indicate an increased risk for T2DM.
2型糖尿病（T2DM）的特征是具有显著的家族聚集性，涉及许多基因的常见变异，其遗传性导致与普通人群相比，受累个体的兄弟姐妹患病率较高。内表型是客观的、可遗传的定量性状，似乎在更易于生物学处理的水平上反映了多基因疾病的遗传风险。基于同胞对设计，我们旨在寻找T2DM的神经影像学内表型，并研究内在神经系统疾病在T2DM发病机制和病情恶化中的作用。
本研究纳入了26对确诊的T2DM患者及其未患病的兄弟姐妹以及26名无关对照。使用3.0 T MRI系统采集高分辨率结构MRI和三维伪连续动脉自旋标记（3D-pCASL）MRI数据。对结构T1W图像进行基于体素的形态学测量（VBM）分析，并获得脑血流量（CBF）图。所有数据在MATLAB 7.6操作环境下使用SPM8软件包进行处理。
T2DM患者及其未患病的兄弟姐妹除了右侧前额叶脑血流量升高外，右侧颞下回/颞中回和左侧岛叶也存在明显萎缩。兄弟姐妹中几个CBF异常的区域，包括右侧颞下回/颞中回、左侧岛叶、左侧额下回、右侧缘上回、右侧前额叶和双侧前扣带回皮质，在T2DM患者中也呈现出明显萎缩。
灰质（GM）丢失和CBF增加的共同脑区可能作为T2DM的神经影像学内表型，而兄弟姐妹中CBF异常的区域表明T2DM风险增加。
