Genetic aspects of intervertebral disc degeneration

AbstractIntervertebral 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.

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The role of interleukin 4 and IL-4RA in intervertebral disc degeneration: investigation of single nucleotide polymorphisms in genes and a systematic review & meta-analysis of IL-4 expression level

British Journal of Neurosurgery ◽

10.1080/02688697.2019.1698010 ◽

2019 ◽

Vol 34 (1) ◽

pp. 66-71 ◽

Cited By ~ 1

Author(s):

Sara Hanaei ◽

Sina Abdollahzade ◽

Maryam Sadr ◽

Mohammad Hossein Mirbolouk ◽

Ehsan Fattahi ◽

...

Keyword(s):

Systematic Review ◽

Single Nucleotide Polymorphisms ◽

Intervertebral Disc ◽

Disc Degeneration ◽

Intervertebral Disc Degeneration ◽

Meta Analysis ◽

Interleukin 4 ◽

Nucleotide Polymorphisms ◽

Single Nucleotide

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

10.21203/rs.3.rs-22792/v1 ◽

2020 ◽

Author(s):

Sara Hanaei ◽

Sina Abdollahzade ◽

Maryam Sadr ◽

Mohammad Hossein Mirbolouk ◽

Ehsan Fattahi ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Intervertebral Disc ◽

Disc Degeneration ◽

Intervertebral Disc Degeneration ◽

Interleukin 2 ◽

Interleukin 12 ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Ifn Γ

Abstract Background: Intervertebral disc degeneration (IVDD) is an age-related degenerative disease, presenting low back pain or radicular pain in a variety of severity. As the inflammatory changes in discs, the inflammatory and anti-inflammatory cytokines, as well as their respective genes, have been proposed to play role in pathophysiology of disease. This study has been conducted to elucidate the role of IL-2, IL-12, and IFN-γ single nucleotide polymorphisms (SNP) in this disease.Method: 76 patients diagnosed with IVDD and 140 healthy subjects who have complied with eligibility criteria have been included. A total volume of 5cc peripheral blood of each participant has been used for investigating the IL-2 +166G/T, IL-2 -330G/T, IL-12 -1188A/C, and IFN-γ +847A/T single nucleotide polymorphisms (SNP) through PCR-SSP method.Results: The ‘TG’ and ‘TT’ genotypes of IL-2 -330G/T polymorphism have been significantly more common among patients and healthy controls respectively and therefore were associated with disease. The ‘GT’ and ‘TT’ haplotypes of IL-2, comprised of -330G/T, and +166G/T, have been also more common among patients and controls respectively.Conclusion: This study has indicated significant role of IL-2 genotypes and haplotypes in IVDD, as they have been differently distributed in cases and controls. Therefore, alteration in IL-2 gene structure could play an important role in pathophysiology of IVDD through alteration of its function.

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INTERVERTEBRAL DISC DEGENERATION LINKED TO STRUCTURAL GENE VARIATIONS

Pakistan Journal of Medicine and Dentistry ◽

10.36283/pjmd8-4/012 ◽

2019 ◽

Author(s):

Saeeda Baig

Keyword(s):

Intervertebral Disc ◽

Disc Degeneration ◽

Intervertebral Disc Degeneration ◽

English Language ◽

Tandem Repeats ◽

Lumbar Disc ◽

Disease Process ◽

Nucleotide Polymorphisms ◽

Structural Protein ◽

Lumbar Disc Degeneration

During the recent past focus has shifted from identifying intervertebral disc degeneration as being caused by physical exposure and strain to being linked with a variety of genetic variations. The objective of this review is to provide an up to date review of the existing research data regarding the relation of intervertebral disc degeneration to structural protein genes and their polymorphisms and thus help clearly establish further avenues where research into causation and treatment is needed. A comprehensive search using the keywords “Collagen”, “COL”, “Aggrecan”, “AGC”, “IVDD”, “intervertebral disc degeneration”, and “lumbar disc degeneration” from PubMed and Google Scholar, where literature in the English language was selected spanning from 1991 to 2019. There are many genes involved in the production of structural components of an intervertebral disc. The issues in production of these components involve the over-expression or under-expression of their genes, and single nucleotide polymorphisms and variable number of tandem repeats affecting their structures. These structural genes include primarily the collagen and the aggrecan genes. While genetic and environmental factors all come into play with a disease process like disc degeneration, the bulk of research now shows the significantly larger impact of hereditary over exposure. While further research is needed into some of the lesser studied genes linked to IVDD and also the racial variations in genetic makeup, the focus in the near future should be on establishment of genetic testing to identify individuals at greater risk of disease and deliberation regarding the use of gene therapy to prevent disc degeneration.

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