The Cartilage Intermediate Layer Protein Gene is Associated with Lumbar Disc Degeneration in Collegiate Judokas

Abstract

Lumbar disc degeneration is frequently seen in athletes. Lumbar disc diseases include a spectrum of diseases and/or symptoms, including lumbar disc degeneration. Some reports suggest an association between lumbar disc diseases and a functional single-nucleotide polymorphism (SNP;1184T/C, rs 2073711) of the cartilage intermediate layer protein (CILP) gene. We hypothesized that lumbar disc degeneration occurrence may be significantly associated with SNP variants at the CILP gene in Japanese collegiate judo athletes. Eighty-nine Japanese judo athletes participated in this study. T2-weighted magnetic resonance imaging was used to define lumbar disc degeneration. Genotyping of the CILP gene (1184T/C) was performed using DNA sequencing. By using logistic regression analysis, significant associations of lumbar disc degeneration with the CILP C allele (odds ratio=4.1, 95% confidence interval: 1.57–10.71) and body weight (odds ratio=1.06, 95% confidence interval: 1.02–1.09) were observed. We conclude that the CILP gene 1184T/C polymorphism is a significant risk factor for lumbar disc degeneration occurrence in Japanese collegiate judo athletes.

Key words

lumbar disc degeneration - radiological abnormalities - polymorphism

References

• 1 Annunen S, Paassilta P, Lohiniva J, Perälä M, Pihlajamaa T, Karppinen J, Tervonen O, Kröger H, Lähde S, Vanharanta H, Ryhänen L, Göring HH, Ott J, Prockop DJ, Ala-Kokko L. An allele of COL9A2 associated with intervertebral disc disease.  Science. 1999;  285 409-412
• 2 Iwai K, Nakazato K, Irie K, Fujimoto H, Nakajima H. Trunk muscle strength and disability level of low back pain in collegiate wrestlers.  Med Sci Sports Exerc. 2004;  36 1296-1300
• 3 Kaneoka K, Shimizu K, Hangai M, Okuwaki T, Mamizuka N, Sakane M, Ochiai N. Lumbar intervertebral disk degeneration in elite compe-titive swimmers: A case control study.  Am J Sports Med. 2007;  35 1341-1345
• 4 Karppinen J, Daavittila I, Solovieva S, Kuisma M, Taimela S, Natri A, Haapea M, Korpelainen R, Niinimäki J, Tervonen O, Ala-Kokko L, Männikkö M. Genetic factors are associated with modic changes in endplates of lumber vertebral bodies.  Spine. 2008;  33 1236-1241
• 5 Kawaguchi Y, Kanamori M, Ishihara H, Ohmori K, Matsui H, Kimura T. The association of lumbar disc disease with vitamin-D receptor gene polymorphism.  J Bone Joint Surg Am. 2002;  84-A 2022-2028
• 6 Okada T, Nakazato K, Iwai K, Tanabe M, Irie K, Nakajima H. Body mass, nonspecific low back pain, and anatomical changes in the lumbar spine in judo athletes.  J Orthop Sports Phys Ther. 2007;  37 688-693
• 7 Paassilta P, Lohiniva J, Göring HH, Perälä M, Räinä SS, Karppinen J, Hakala M, Palm T, Kröger H, Kaitila I, Vanharanta H, Ott J, Ala-Kokko L. Identification of a novel common genetic risk factor for lumbar disk disease.  JAMA. 2001;  285 1843-1849
• 8 Pfirrmann CW, Metzdorf A, Zanetti M, Hodler J, Boos N. Magnetic resonance classification of lumbar intervertebral disc degeneration.  Spine. 2001;  26 1873-1878
• 9 Pluijm SM, van Essen HW, Bravenboer N, Uitterlinden AG, Smit JH, Pols HA, Lips P. Collagen type I alpha1 Sp1 polymorphism, osteoporosis, and intervertebral disc degeneration in older men and women.  Ann Rheum Dis. 2004;  63 71-77
• 10 Powell MC, Wilson M, Szypryt P, Symonds EM, Worthington BS. Prevalence of lumbar disc degeneration observed by magnetic resonance in symptomless women.  Lancet. 1986;  2 1366-1367
• 11 Seki S, Kawaguchi Y, Chiba K, Mikami Y, Kizawa H, Oya T, Mio F, Mori M, Miyamoto Y, Masuda I, Tsunoda T, Kamata M, Kubo T, Toyama Y, Kimura T, Nakamura Y, Ikegawa S. A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease.  Nat Genet. 2005;  37 607-612
• 12 Solovieva S, Kouhia S, Leino-Arjas P, Ala-Kokko L, Luoma K, Raininko R, Saarela J, Riihimäki H. Interleukin 1 polymorphisms and intervertebral disc degeneration.  Epidemiology. 2004;  15 626-633
• 13 Takahashi M, Haro H, Wakabayashi Y, Kawa-uchi T, Komori H, Shinomiya K. The association of degeneration of the intervertebral disc with 5a/6a polymorphism in the promoter of the human matrix metalloproteinase-3 gene.  J Bone Joint Surg Br. 2001;  83 491-495
• 14 Virtanen IM, Song YQ, Cheung KM, Ala-Kokko L, Karppinen J, Ho DW, Luk KD, Yip SP, Leong JC, Cheah KS, Sham P, Chan D. Phenotypic and population differences in the association between CILP and lumbar disc disease.  J Med Genet. 2007;  44 285-288

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