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Genetic Predictors of Early-Onset Spinal Intervertebral Disc Degeneration: Part Two of Two.

ABSTRACT: 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: asporin, cartilage intermediate layer protein, insulin-like growth factor 1 receptor, matrix metallopeptidase 9, and thrombospondin 2. 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.

SUBMITTER: Fiani B

PROVIDER: S-EPMC8221650 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature

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Genetic Predictors of Early-Onset Spinal Intervertebral Disc Degeneration: Part Two of Two.

Fiani Brian B Covarrubias Claudia C Jarrah Ryan R

Cureus 20210522 5

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- ...[more]

PMID: 34178504

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Project description:Background contextDisc degeneration (DD) is a multifaceted chronic process that alters the structure and function of the intervertebral discs and can lead to painful conditions. The pathophysiology of degeneration is not well understood, but previous studies suggest that certain genetic polymorphisms may be important contributing factors leading to an increased risk of DD.PurposeTo review the genetic factors in DD with a focus on polymorphisms and their putative role in the pathophysiology of degeneration. Elucidating the genetic components that are associated with degeneration could provide insights into the mechanism of the process. Furthermore, defining these relationships and eventually using them in a clinical setting may allow an identification and early intervention for those who are at a high risk for painful DD.Study designLiterature review.MethodsThis literature review focused on the studies concerning genetic polymorphisms and their associations with DD.ResultsGenetic polymorphisms in 20 genes have been analyzed in association with DD, including vitamin D receptor, growth differentiation factor 5 (GDF5), aggrecan, collagen Types I, IX, and XI, fibronectin, hyaluronan and proteoglycan link protein 1 (HAPLN1), thrombospondin, cartilage intermediate layer protein (CILP), asporin, MMP1, 2, and 3, parkinson protein 2, E3 ubiquitin protein ligase (PARK2), proteosome subunit β type 9 (PSMB9), tissue inhibitor of metalloproteinase (TIMP), cyclooxygenase-2 (COX2), and IL1α, IL1β, and IL6. Each genetic polymorphism codes for a protein that has a functional role in the pathogenesis of DD.ConclusionsThere are known associations between several genetic polymorphisms and DD. Of the 20 genes analyzed, polymorphisms in vitamin D receptor, aggrecan, Type IX collagen, asporin, MMP3, IL1, and IL6 show the most promise as functional variants. Genetic studies are crucial for understanding the mechanism of the degeneration. This genetic information could eventually be used as a predictive model for determining a patient's risk for symptomatic DD.

Dataset Information

Genetic Predictors of Early-Onset Spinal Intervertebral Disc Degeneration: Part Two of Two.

Publications

Genetic Predictors of Early-Onset Spinal Intervertebral Disc Degeneration: Part Two of Two.

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