Distribution of COL9A2 and COL9A3 Gene Polymorphism in Male Chinese Singaporean - A Pilot Observational Study

Lim, Edwin C. W., Wong, W. P., Ng, Gavin B. P., Chan, L. L., Tan, S. B., Tow, P. B. and Zhao, Y. (2011) Distribution of COL9A2 and COL9A3 Gene Polymorphism in Male Chinese Singaporean - A Pilot Observational Study. International Journal of Human Genetics, 11 3: 193-198.

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Author Lim, Edwin C. W.
Wong, W. P.
Ng, Gavin B. P.
Chan, L. L.
Tan, S. B.
Tow, P. B.
Zhao, Y.
Title Distribution of COL9A2 and COL9A3 Gene Polymorphism in Male Chinese Singaporean - A Pilot Observational Study
Journal name International Journal of Human Genetics   Check publisher's open access policy
ISSN 0972-3757
Publication date 2011-09
Sub-type Article (original research)
Open Access Status File (Publisher version)
Volume 11
Issue 3
Start page 193
End page 198
Total pages 6
Place of publication New Delhi, India
Publisher Kamla-Raj Enterprises
Collection year 2012
Language eng
Formatted abstract
The association between allelic variants and lumbar disc degenerative disease (DDD) has been investigated in Europe and Northern Asia. However, this has not been investigated in Southeast Asia. This observational study aims to compare the distribution of COL9A2 and COL9A3 gene polymorphism among male Chinese  Singaporeans with and without lumbar DDD. COL9A2 gene polymorphism was investigated in p326 (tryptophan 2, Trp2 and glutamine 2, Gln2, alleles) and p335 (valine 2 or Val2 allele). COL9A3 gene polymorphism was investigated in p17 (glycine 3 or Gly3 allele) and p103 (tryptophan 3 or Trp3 allele). The Val2 allele was significantly decreased in the group with lumbar DDD (p < 0.05). No significant difference in allelic distributions of Trp2, Gln2 and Gly3 was found. The Trp3 allele was absent from all the subjects. The presence of at least one Val2 allele appears to have a protective effect against DDD. However, these should be interpreted with caution, given the limitations. Further investigations are warranted in order to verify such genetic predisposition prior to the potential development of preventative or therapeutic strategies in the near future.
Keyword Col9a2
Col9
Val2
Degenerative Disc Disease
Intervertebral Disc Degeneration
Risk-Factor
Disease
Allele
Severity
Sciatica
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2012 Collection
School of Health and Rehabilitation Sciences Publications
 
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