Open Access Open Badges Research article

Genetic susceptibility of intervertebral disc degeneration among young Finnish adults

Anthi Kelempisioti1, Pasi J Eskola1, Annaleena Okuloff2, Ulla Karjalainen1, Jani Takatalo3, Iita Daavittila1, Jaakko Niinimäki4, Roberto B Sequeiros4, Osmo Tervonen4, Svetlana Solovieva56, Patrick YP Kao7, You-Qiang Song7, Kenneth MC Cheung8, Danny Chan7, Leena Ala-Kokko19, Marjo-Riitta Järvelin10111213, Jaro Karppinen143 and Minna Männikkö1*

Author Affiliations

1 Oulu Center for Cell Matrix Research, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Aapistie 7/P.O. Box 5000, 90014 Oulu, Finland

2 Finnish Institute of Occupational Health, Finland

3 Institute of Clinical Medicine, Department of Physical and Rehabilitation Medicine, University of Oulu, Oulu, Finland

4 Department of Diagnostic Radiology, University of Oulu, Oulu, Finland

5 Centre of Expertise for Health and Work Ability, Finnish Institute of Occupational Health, Helsinki, Finland

6 Disability Prevention Center, Finnish Institute of Occupational Health, Helsinki, Finland

7 Department of Biochemistry, The University of Hong Kong, Pokfulam, Hong Kong, China

8 Department of Orthopaedics and Traumatology, The University of Hong Kong, Pokfulam, Hong Kong, China

9 Connective Tissue Gene Tests, Allentown, Pennsylvania, USA

10 Department of Public Health and General Practice, Institute of Health Sciences, University of Oulu, Oulu, Finland

11 Biocenter Oulu, University of Oulu, Oulu, Finland

12 National Institute of Health and Welfare, Oulu, Finland

13 Department of Biostatistics and Epidemiology, School of Public Health, MRC-HPA Centre for Environment and Health, Imperial College, Faculty of Medicine, London, UK

14 Finnish Institute of Occupational Health, Oulu, Finland

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BMC Medical Genetics 2011, 12:153  doi:10.1186/1471-2350-12-153

Published: 22 November 2011



Disc degeneration (DD) is a common condition that progresses with aging. Although the events leading to DD are not well understood, a significant genetic influence has been found. This study was undertaken to assess the association between relevant candidate gene polymorphisms and moderate DD in a well-defined and characterized cohort of young adults. Focusing on young age can be valuable in determining genetic predisposition to DD.


We investigated the associations of existing candidate genes for DD among 538 young adults with a mean age of 19 belonging to the 1986 Northern Finland Birth Cohort. Nineteen single nucleotide polymorphisms (SNP) in 16 genes were genotyped. We evaluated lumbar DD using the modified Pfirrmann classification and a 1.5-T magnetic resonance scanner for imaging.


Of the 538 individuals studied, 46% had no degeneration, while 54% had DD and 51% of these had moderate DD. The risk of DD was significantly higher in subjects with an allele G of IL6 SNPs rs1800795 (OR 1.45, 95% CI 1.07-1.96) and rs1800797 (OR 1.37, 95% CI 1.02-1.85) in the additive inheritance model. The role of IL6 was further supported by the haplotype analysis, which resulted in an association between the GGG haplotype (SNPs rs1800797, rs1800796 and rs1800795) and DD with an OR of 1.51 (95% CI 1.11-2.04). In addition, we observed an association between DD and two other polymorphisms, SKT rs16924573 (OR 0.27 95% CI 0.07-0.96) and CILP rs2073711 in women (OR 2.04, 95% CI 1.07-3.89).


Our results indicate that IL6, SKT and CILP are involved in the etiology of DD among young adults.