Fiani Brian, Covarrubias Claudia, Jarrah Ryan
Neurosurgery, Desert Regional Medical Center, Palm Springs, USA.
School of Medicine, Universidad Anáhuac Querétaro, Santiago de Querétaro, MEX.
Cureus. 2021 May 22;13(5):e15183. doi: 10.7759/cureus.15183.
Understanding genetic indicators is a fundamental aspect to characterizing the pathophysiology of chronic diseases such as intervertebral disc degeneration (IVDD). In our previous spinal genetics review, we characterized some more common genetic influencers in the context of IVDD. In this second part of our two-part comprehensive spinal genetics review, we characterize the more infrequently studied genes that have pathophysiological relevance. In doing so, we aim to expand upon the current gene-library for IVDD. The genes of interest include: , , , , and . Findings show that these genetic indicators have trends and polymorphisms that may have causal associations with the manifestation of IVDD. However, there is a narrow selection of studies that use genetic indicators to describe correlations to the severity and longevity of the pathology. Nevertheless, with the continued identification of risk genes involved with IVDD, the possibilities for refined models of gene therapies can be established for future treatment trials.
了解遗传指标是表征诸如椎间盘退变（IVDD）等慢性疾病病理生理学的一个基本方面。在我们之前的脊柱遗传学综述中，我们在IVDD的背景下描述了一些更常见的遗传影响因素。在我们两部分的全面脊柱遗传学综述的第二部分中，我们描述了具有病理生理学相关性但较少被研究的基因。在此过程中，我们旨在扩充当前IVDD的基因库。感兴趣的基因包括： ， ， ， ，以及 。研究结果表明，这些遗传指标具有可能与IVDD表现存在因果关联的趋势和多态性。然而，使用遗传指标来描述与病理严重程度和病程相关性的研究选择有限。尽管如此，随着与IVDD相关的风险基因不断被识别出来，未来治疗试验可以建立更精细的基因治疗模型。
