Is Cervical Spondylotic Myelopathy Genetic?

Old age change in the neck leading to narrowing of the spinal canal is the bane of older subjects. A Chinese study suggests, in their population, it is related to Vitamin D receptor polymorphisms

Clin Chim Acta. 2010 Feb 6. [Epub ahead of print]
The genetic association of Vitamin D receptor polymorphisms and cervical spondylotic myelopathy in Chinese subjects.
Wang Z, Chen X, Wang D, Shi J, Jia L, Huang J, Fang L.  abstract here

Results included: ”

  • For ApaI polymorphism, the cases had a marked higher prevalence of AA genotype (19.5% vs. 8.3%, P=0.003) and A allele frequencies (34.4% vs. 22.4%, P<0.001) than controls.
  • For TaqI polymorphism, the cases had a significant higher prevalence of TT genotype (67.5vs. 44.2%, P<0.001)
  • T allele frequencies (76.9% vs. 54.2%, P<0.001) than controls.
  • The odds ratio for CSM was 2.88 for the ApaI A allele carriers and 4.67 for the TaqI T allele carriers.
  • The TaqI genotypes, both TT and TC showed a markedly higher MRI severity grading level than CC genotype (both P<0.01, compared with CC genotype). CONCLUSION: Certain VDR polymorphism is related in the presence and severity of CSM in Chinese subjects

Comment – saw a patient this AM who is looking to have surgery for his cervical neck myelopathy. He has some leg weakness, pain in left arm and chest wall and some  unsteady gait issues. Does have some bladder issues but has prostatism.

A recent article reviewed chances:

Spine (Phila Pa 1976). 2010 Mar 1;35(5):537-43.
Systematic review of cohort studies comparing surgical treatments for cervical
spondylotic myelopathy.
Cunningham MR, Hershman S, Bendo J. abstract
long term 10 year recovery in two articles was 54 – 63%
What does one make of Vitamin D “polymorphisms”.

A definition I came across is the following: “A polymorphism is a genetic variant that appears in at least 1% of the population. These changes can occur in non-coding
parts of the gene (introns), so they would not be seen in the protein product. Changes in these regulatory parts of the gene would then affect the degree of expression of the gene, and thus the levels of the protein. ” (from ref below)
Well, funny Vitamin D handling genes have been studied in recent years:

Clin Chim Acta. 2006 Sep;371(1-2):1-12. Epub 2006 Mar 6.
Vitamin D receptor polymorphisms and diseases.
Valdivielso JM, Fernandez E  abstract here
Associations include:

– secondary hyperparathyroidism in renal failure cases

– bone density issues
– kidney stones

– Diabetes type I and II  in certain groups -( makes me wonder about our own native population which has a high diabetes rate and, particularly further north, a hopelessly low vitamin D level)

–  susceptibility to calcific aortic valve stenosis

–  ” autoimmune disorders like lupus, cirrhosis, hepatitis, Crohn, Graves’ disease and multiple sclerosis.”

– primary hyperparathyroidism

– certain gene type may be protective against psoriasis

Comment – genetics is going to play a bigger role than we can imagine…

Comments –

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