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Int J Mol Epidemiol Genet 2010;1(2):158-165.

Original Article
Genetic risk factors of disc degeneration among 12-14-year-old Danish
children: a population study

Eskola Pasi J, Kjaer Per, Daavittila Iita M, Solovieva Svetlana, Okuloff Annaleena,  Sorensen Joan S, Wedderkopp Niels, Ala-
Kokko Leena, Männikkö Minna and Karppinen Jaro I

Oulu Center for Cell – Matrix Research, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of
Oulu, Oulu, Finland; The Back Research Centre, Back Center Funen  and University of Southern Denmark, Denmark;
Musculoskeletal Centre, Finnish Institute of Occupational Health, Oulu and Helsinki, Finland; Connective Tissue Gene Tests,
Allentown, USA; Institute of Clinical Sciences, Department of Physical Medicine and Rehabilitation, University of Oulu, Oulu,
Finland; Orton Orthopaedic Hospital, Helsinki, Finland.

Received December 16, 2009; accepted March 22, 2010; available online March 29, 2010

Abstract: The objective of the present study was to examine the associations between eleven putative predisposing
single nucleotide polymorphisms (COL9A3, COL11A2, IL1A, IL1B, IL6 and VDR) and early disc degeneration (DD). The
population consisted of 12 to 14-year-old Danish children (N=352). DD was evaluated from magnetic resonance images
(MRI). We analysed the association between DD and single nucleotide polymorphisms or haplotypes using logistic
regression analyses. Of the 352 children studied, 73 boys and 81 girls had no MRI changes, while 30 boys and 36
girls had lumbar DD. Among girls, IL1A rs1800587 in CT/TT compared to CC resulted in OR 2.85 [1.19-6.83]. In IL6
promoter polymorphism rs1800796, the C-allele was more frequent among the subjects with DD, OR 6.71 [1.71-
26.3]. Of the IL6 haplotypes, GCG was associated with DD, OR 6.46 [1.61 – 26.0]. No associations were observed
among boys. Our results suggest possible roles for IL1A and IL6 in early DD among girls. (IJMEG912002).

Key words: Disc degeneration, children, genetics, interleukins

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Address all correspondence to:
Jaro I Karppinen, PhD
Department of Physical and Rehabilitation Medicine
Institute of Clinical Sciences,
University of Oulu
PL 5000, 90014 Oulu, Finland.
Tel: +358414462859, Fax+35883153501.