Measures of spinal cord structure can be a useful phenotype to track disease severity and development; this observational study measures the hereditability of cervical spinal cord anatomy and its correlates in healthy human beings.

Twin data from the Human Connectome Project were analyzed with semiautomated spinal cord segmentation, evaluating test-retest reliability and broad-sense heritability with an AE model. Relationships between spinal cord metrics, general physical measures, regional brain structural measures, and motor function were assessed.

We found that the spinal cord C2 cross-sectional area (CSA), left-right width (LRW), and anterior-posterior width (APW) are highly heritable (85%–91%). All measures were highly correlated with the brain volume, and CSA only was positively correlated with thalamic volumes (p = 0.005) but negatively correlated with the occipital cortex area (p = 0.001). LRW was correlated with the participant's height (p = 0.00027). The subjects' sex significantly influenced these metrics. Analyses of a test-retest data set confirmed validity of the approach.

This study provides the evidence of genetic influence on spinal cord structure. MRI metrics of cervical spinal cord anatomy are robust and not easily influenced by nonpathological environmental factors, providing a useful metric for monitoring normal development and progression of neurodegenerative disorders affecting the spinal cord, including—but not limited to—spinal cord injury and MS.

脊髓结构的测量可以成为追踪疾病严重程度和发展的有用表型；这项观察性研究测量了健康人颈脊髓解剖结构的遗传性及其相关性。

使用半自动脊髓分割分析来自人类连接组项目的双胞胎数据，使用 AE 模型评估重测可靠性和广义遗传力。评估了脊髓指标、一般身体指标、区域大脑结构指标和运动功能之间的关系。

我们发现脊髓 C2 横截面积 (CSA)、左右宽度 (LRW) 和前后宽度 (APW) 具有高度遗传性 (85%–91%)。所有测量值均与脑体积高度相关，CSA 仅与丘脑体积呈正相关（p = 0.005），但与枕叶皮层面积呈负相关（p = 0.001）。LRW 与参与者的身高相关（p = 0.00027）。受试者的性别显着影响这些指标。对重测数据集的分析证实了该方法的有效性。

这项研究提供了遗传对脊髓结构影响的证据。颈脊髓解剖结构的 MRI 指标非常可靠，不易受到非病理环境因素的影响，为监测影响脊髓的神经退行性疾病（包括但不限于脊髓损伤和多发性硬化症）的正常发育和进展提供了有用的指标。