Genetic aspects of intervertebral disc degeneration

Abstract

<jats:title>Abstract</jats:title><jats:p>Intervertebral disc degeneration (IVDD) is one of the common causes of low back pain. Similar to many other multifactorial diseases, it is affected by environmental and genetic factors. Although not completely understood, genetic factors include a wide spectrum of variations, such as single nucleotide polymorphisms, which could play a significant role in the etiology of this disease. Besides, the interactions with environmental factors could make the role of genetic factors more complicated. Genetic variations in disc components could participate in developing degenerative disc disease through altering the normal homeostasis of discs. Gene polymorphisms in disc proteins (collagens I, II, III, IX, and XI), proteoglycans (aggrecan), cytokines (interleukins I, VI, and X), enzymes (matrix metalloproteinases II, III, and IX), and vitamin D receptor seem to play considerable roles in the pathology of this disease. There are also many other investigated genes that could somehow take part in the process. However, it seems that more studies are needed to clarify the exact role of genetics in IVDD.</jats:p>

A influência genética na degeneração discal – Revisão sistemática da literatura

“…A expressão de MMP-3 é induzida em resposta a condições locais, como pressão mecânica e inflamação, e a DD resultante da expressão de MMP-3 pode, portanto, aumentar com o tempo. 19,28 As MMPs são as principais enzimas catabólicas do DIV e os mediadores primários da degradação da matriz extracelular, desta forma permitindo o remodelamento normal e contribuindo para a destruição de tecido patológico. 28 A expressão da maioria das MMPs é baixa em discos nãodegenerados, enquanto se observa a expressão aumentada de diferentes MMPs no tecido discal degenerativo humano, como a MMP-2 e a MMP-9.…”

Association of interleukin 2, interleukin 12, and interferon-γ with intervertebral disc degeneration in Iranian population

“…Intervertebral disc degeneration (IVDD) is one of the common causes of discogenic low back pain, which is considered a frequent health problem in adults. This disease affects the patients' quality of life and also has the negative impact on the length of their productive life [1]. Although the mechanical load on the discs and aging are considered as the most important causes of IVDD, genetic and immunologic predispositions have been widely discussed especially in the past 2 decades [1].…”

“…This disease affects the patients' quality of life and also has the negative impact on the length of their productive life [1]. Although the mechanical load on the discs and aging are considered as the most important causes of IVDD, genetic and immunologic predispositions have been widely discussed especially in the past 2 decades [1]. Accordingly, the individuals with speci c genetic predispositions, such as single nucleotide polymorphisms (SNP) of immunologic modulators and cytokines, would be more prone to develop IVDD.…”

“…Accordingly, the individuals with speci c genetic predispositions, such as single nucleotide polymorphisms (SNP) of immunologic modulators and cytokines, would be more prone to develop IVDD. Also they might be affected with severe grades of IVDD or develop disease in younger ages [1].…”

Validation of standard operating procedures in a multicenter retrospective study to identify -omics biomarkers for chronic low back pain

“…The majority of studies that have investigated genetic biomarkers have focused their attention predominantly on disk degeneration and not so much on the low back pain syndrome [10, 11]. …”