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Genetic susceptibility of lumbar degenerative disc disease in young Indian adults

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Abstract

Purpose

Although the exact mechanisms that lead to degenerative disc disease (DDD) are not well understood, a significant genetic influence has been found. Focusing on DDD that occurs in young adults can be valuable in determining the exact role of genetic predisposition to DDD.

Methods

Patients (<40 years) with lumbar disc degeneration were evaluated with MRI imaging (1.5 Tesla) and genetic association analysis for 58 single nucleotide polymorphism (SNP) of 35 candidate genes was performed. Disc degeneration of individual discs of lumbar spine from L1 to S1 was graded by Pfirrmann’s grading. The subjects were stratified into two groups based on Total Disc Degenerative Score (TDDS). Based on TDDS, the severity of DDD was classified as mild (Group A: TDDS <10) and severe (Group B: TDDS >10).

Results

695 Indian subjects including 308 with mild TDDS and 387 with severe TDDS were studied. The mean age of the patients was 29.6 ± 6.9 years in group A and 31.7 ± 6.1 in group B (p < 0.05). Five of the 35 candidate genes viz., rs1337185 of COL11A (p = 0.02), rs5275 (p = 0.03) and rs5277 (p = 0.05) of COX2, rs7575934 of IL1F5 (p = 0.04), rs3213718 of CALM1 (p = 0.04) and rs162509 of ADAMTS5 (p = 0.04) were found to be significantly associated with severe TDDS.

Conclusion

The study identifies specific SNP associations of five genes in young adults with severe lumbar disc degeneration. These five genes (COL11A1, ADAMTS5, CALM1, IL1F5and COX2) have different functions in the matrix metabolism, intracellular signalling and inflammatory cascade. This shows that disc degeneration is a complex disease with an intricate interplay of multiple genetic polymorphisms.

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Acknowledgments

The study is funded by Ganga Orthopaedic Research and Education Foundation, AOSIN (R) 2012-01, University Grants Council of Hong Kong (AoE04/04) and AOSPINE (AOSBRC-07-2). This study was approved by Institutional Review Board of Ganga Hospital, Coimbatore, India.

Conflict of interest

None.

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Authors and Affiliations

  1. Department of Orthopaedics and Spine Surgery, Ganga Hospital, 313, Mettupalayam Road, Coimbatore, Tamil Nadu, 641 011, India

    S. Rajasekaran, Rishi Mugesh Kanna & Ajoy Prasad Shetty

  2. Tamilnadu Agricultural University, Coimbatore, India

    Natesan Senthil, Muthuraja Raveendran & Veera Ranjani

  3. University of Hong Kong, Pokfulam, Hong Kong, China

    Kenneth M. C. Cheung, Danny Chan, Patrick Y. P. Kao & Anita Yee

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  1. S. Rajasekaran
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  2. Rishi Mugesh Kanna
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  10. Ajoy Prasad Shetty
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Correspondence to S. Rajasekaran.

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Rajasekaran, S., Kanna, R.M., Senthil, N. et al. Genetic susceptibility of lumbar degenerative disc disease in young Indian adults. Eur Spine J 24, 1969–1975 (2015). https://doi.org/10.1007/s00586-014-3687-y

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  • DOI: https://doi.org/10.1007/s00586-014-3687-y

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