Genetic Influence in Disc Degeneration - Systematic Review of Literature

• Published in: Revista brasileira de ortopedia Vol. 55; no. 2; pp. 131 - 138
• Main Authors: Teles Filho, Ricardo Vieira, Abe, Guilherme de Matos, Daher, Murilo Tavares
• Format: Journal Article
• Language: English
• Published: Germany Sociedade Brasileira de Ortopedia e Traumatologia. Published by Thieme Revinter Publicações Ltda 01.04.2020; Sociedade Brasileira de Ortopedia e Traumatologia; Thieme Revinter Publicações Ltda
• Subjects: Artigo de Revisão; degeneração do disco intervertebral; disco intervertebral; genética; ORTHOPEDICS; polimorfismo genético; intervertebral disc degeneration; polymorphism, genetic; intervertebral disc; genetics; genética; disco intervertebral; degeneração do disco intervertebral; polimorfismo genético
• ISSN: 0102-3616; 1982-4378; 1982-4378
• DOI: 10.1055/s-0039-1692626

Disc degeneration is a condition that compromises the intervertebral disc functions, which can lead to several important pathological processes, such as disc herniation and canal stenosis. Although its etiology is still unknown, more and more studies have demonstrated the preponderant role of genetic factors to the detriment of environmental factors. Aiming to review the current knowledge about the genes associated with intervertebral disc degeneration, we have performed a narrative review based on the medical literature in the English language from the last 10 years regarding this subject. We have concluded that several genes have been associated with disc degeneration in humans, including the genes for collagen I α-1 ( ), collagen IX ( and ), collagen XI ( ), interleukin 6 ( ), aggrecan ( ), vitamin D receptor ( ), and matrix metalloproteinase 3 ( , in addition to microRNAs. Therefore, the present review emphasizes the latest advancements in the association of genes with specific phenotypes of degenerated discs, single-nucleotide polymorphisms, heritage and genetic-environmental interactions in relation to disc degeneration to help future reviews regarding the genetic mechanisms underlying these processes.