RESEARCH ARTICLE Open Access Genetic susceptibility of intervertebral disc degeneration among young Finnish adults

Background: 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 modera...

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Main Authors: Anthi Kelempisioti, Pasi J Eskola, Annaleena Okuloff, Ulla Karjalainen, Jani Takatalo, Iita Daavittila, Jaakko Niinimäki, Roberto B Sequeiros, Osmo Tervonen, Svetlana Solovieva, Patrick Yp Kao, You-qiang Song, Kenneth Mc Cheung, Danny Chan, Leena Ala-kokko, Marjo-riitta Järvelin, Minna Männikkö
Other Authors: The Pennsylvania State University CiteSeerX Archives
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Language:English
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Online Access:http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.287.2068
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Summary:Background: 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. Methods: 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. Results: 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