Genetic susceptibility of lumbar degenerative disc disease in young Indian adults
| Autor: | Kenneth M.C. Cheung, Daniel W. Chan, Anita Yee, Veera Ranjani, Muthuraja Raveendran, Senthil Natesan, Rishi Mugesh Kanna, Patrick Y. P. Kao, S. Rajasekaran, Ajoy Prasad Shetty |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Male medicine.medical_specialty India Single-nucleotide polymorphism Intervertebral Disc Degeneration Collagen Type XI Bioinformatics Polymorphism Single Nucleotide White People Degenerative disc disease Young Adult Lumbar Calmodulin medicine Genetic predisposition Humans Genetic Predisposition to Disease Orthopedics and Sports Medicine Young adult Lumbar Vertebrae business.industry Interleukins equipment and supplies medicine.disease Magnetic Resonance Imaging ADAM Proteins Cyclooxygenase 2 Disc degeneration Female Surgery ADAMTS5 Protein Neurosurgery business |
| Zdroj: | European Spine Journal. 24:1969-1975 |
| ISSN: | 1432-0932 0940-6719 |
| DOI: | 10.1007/s00586-014-3687-y |
| Popis: | 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.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: TDDS10) and severe (Group B: TDDS10).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 (p0.05). 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.The study identifies specific SNP associations of five genes in young adults with severe lumbar disc degeneration. These five genes (COL11A1, ADAMTS5, CALM1, IL1F5 and 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. |
| Databáze: | OpenAIRE |
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