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, 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.
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, 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.
Authors: Norbert Boos; Sabine Weissbach; Helmut Rohrbach; Christoph Weiler; Kevin F Spratt; Andreas G Nerlich Journal: Spine (Phila Pa 1976) Date: 2002-12-01 Impact factor: 3.468
Authors: Jeffrey J T Jim; Noora Noponen-Hietala; Kenneth M C Cheung; Jürg Ott; Jaro Karppinen; Ahmad Sahraravand; Keith D K Luk; Shea-Ping Yip; Pak C Sham; You-Qiang Song; John C Y Leong; Kathryn S E Cheah; Leena Ala-Kokko; Danny Chan Journal: Spine (Phila Pa 1976) Date: 2005-12-15 Impact factor: 3.468
Authors: Tapio Videman; Janna Saarela; Jaakko Kaprio; Annu Näkki; Esko Levälahti; Kevin Gill; Leena Peltonen; Michele C Battié Journal: Arthritis Rheum Date: 2009-02
Authors: Heather Stanton; Fraser M Rogerson; Charlotte J East; Suzanne B Golub; Kate E Lawlor; Clare T Meeker; Christopher B Little; Karena Last; Pamela J Farmer; Ian K Campbell; Anne M Fourie; Amanda J Fosang Journal: Nature Date: 2005-03-31 Impact factor: 49.962
Authors: Anthi Kelempisioti; Pasi J Eskola; Annaleena Okuloff; Ulla Karjalainen; Jani Takatalo; Iita Daavittila; Jaakko Niinimäki; Roberto B Sequeiros; Osmo Tervonen; Svetlana Solovieva; Patrick Y P Kao; You-Qiang Song; Kenneth M C Cheung; Danny Chan; Leena Ala-Kokko; Marjo-Riitta Järvelin; Jaro Karppinen; Minna Männikkö Journal: BMC Med Genet Date: 2011-11-22 Impact factor: 2.103
Authors: Paola Bermudez-Lekerika; Katherine B Crump; Sofia Tseranidou; Andrea Nüesch; Exarchos Kanelis; Ahmad Alminnawi; Laura Baumgartner; Estefano Muñoz-Moya; Roger Compte; Francesco Gualdi; Leonidas G Alexopoulos; Liesbet Geris; Karin Wuertz-Kozak; Christine L Le Maitre; Jérôme Noailly; Benjamin Gantenbein Journal: Front Cell Dev Biol Date: 2022-06-29
Authors: Nikolay L Martirosyan; Arpan A Patel; Alessandro Carotenuto; M Yashar S Kalani; Evgenii Belykh; Corey T Walker; Mark C Preul; Nicholas Theodore Journal: Front Surg Date: 2016-11-21