Genetic susceptibility of intervertebral disc degeneration among young Finnish adults

BMC Medical Genetics

Research Article

Svetlana Solovieva¹  Patrick YP Kao²  Danny Chan²  You-Qiang Song²  Osmo Tervonen³  Roberto B Sequeiros³  Jaakko Niinimäki³  Kenneth MC Cheung⁴  Marjo-Riitta Järvelin⁵  Annaleena Okuloff⁶  Jani Takatalo⁷  Jaro Karppinen⁸  Pasi J Eskola⁹  Ulla Karjalainen⁹  Minna Männikkö⁹  Anthi Kelempisioti⁹  Iita Daavittila⁹  Leena Ala-Kokko^1,10 

[1] Centre of Expertise for Health and Work Ability, Finnish Institute of Occupational Health, Helsinki, Finland;Disability Prevention Center, Finnish Institute of Occupational Health, Helsinki, Finland;Department of Biochemistry, The University of Hong Kong, Pokfulam, Hong Kong, China;Department of Diagnostic Radiology, University of Oulu, Oulu, Finland;Department of Orthopaedics and Traumatology, The University of Hong Kong, Pokfulam, Hong Kong, China;Department of Public Health and General Practice, Institute of Health Sciences, University of Oulu, Oulu, Finland;Biocenter Oulu, University of Oulu, Oulu, Finland;National Institute of Health and Welfare, Oulu, Finland;Department of Biostatistics and Epidemiology, School of Public Health, MRC-HPA Centre for Environment and Health, Imperial College, Faculty of Medicine, London, UK;Finnish Institute of Occupational Health, Finland;Institute of Clinical Medicine, Department of Physical and Rehabilitation Medicine, University of Oulu, Oulu, Finland;Institute of Clinical Medicine, Department of Physical and Rehabilitation Medicine, University of Oulu, Oulu, Finland;Finnish Institute of Occupational Health, Oulu, Finland;Oulu Center for Cell Matrix Research, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, P.O. Box 5000, Aapistie 7, 90014, Oulu, Finland;Oulu Center for Cell Matrix Research, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, P.O. Box 5000, Aapistie 7, 90014, Oulu, Finland;Connective Tissue Gene Tests, Allentown, Pennsylvania, USA;

关键词: Nucleus Pulposus;    Single Nucleotide Polymorphism;    Disc Degeneration;    Lumbar Disc Herniation;    Lumbar Disc Degeneration;   

DOI  :  10.1186/1471-2350-12-153

 received in 2011-06-30, accepted in 2011-11-22,  发布年份 2011

来源: Springer

【 摘 要 】

BackgroundDisc 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.MethodsWe 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.ResultsOf 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).ConclusionOur results indicate that IL6, SKT and CILP are involved in the etiology of DD among young adults.

【 授权许可】

Unknown   
© Kelempisioti et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.