Volume Meeting Abstracts: Intl Soc for the Study of the Lumbar Spine 2003 - pg. 1-95postprin

Ala-Kokko, L

Chan, D

Cheah, KSE

Cheung, KMC

Jim, JJT

Karppinen, J

Leong, JCY

Luk, KDK

Nonopone, NH

Ott, J

Song, YQ

Yip, SP

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Title Association of lumbar disc degeneration with type IX collagenpolymorphism in ChineseAuthor(s)Cheung, KMC; Jim, JJT; Nonopone, NH; Cheah, KSE; Ala-Kokko,L; Ott, J; Karppinen, J; Song, YQ; Yip, SP; Leong, JCY; Luk,KDK; Chan, DCitationThe 30th Annual Meeting of the International Society for theStudy of the Lumbar Spine (ISSLS 2003), Vancouver, Canada, 13-17 May 2003. In Spine: Affiliated Society Meeting Abstracts,2003, p. 23, abstract no. 23Issued Date 2003URL http://hdl.handle.net/10722/96036RightsThis is a non-final version of an article published in final form in(provide complete journal citation); Association of lumbar discdegeneration with type IX collagen polymorphism (col9a2Q326w) in Chinese23 ASSOCIATION OF LUMBAR DISC DEGENERATION WITH TYPE IX COLLAGEN POLYMORPHISMS IN CHINESE  Cheung KMC2, Jim J 2, Nonopone NH3, Cheah KSE1, Ala-Kokko L3, Ott J4, Karppinen J5, Song YQ1&2, Yip SP6, Leong JCY2, Luk KDK2, Chan D1.  1Department of Biochemistry a nd 2Department of Orthopaedic Surgery, University of Hong Kong, Hong Kong. 3Center for Gene Therapy and Department of Medicine, Tulane University Health Sciences Center, New Orleans, Louisiana, USA.  4Laboratory of Statistical Genetics, Rockefeller University, New York, USA.  5Department of Rehabilitation, University of Oulu, Oulu, Finland. 6Nursing and Health Sciences, Polytechnic University, Hong Kong.  Introduction: Intervertebral disc degeneration is usually thought to be related to aging and spinal loa ding. This study is the first to investigate on collagen IX allelic variants in the Southern Chinese population, and their contributions as genetic predisposing factors to intervertebral disc degeneration. In particular , we examined the association of Gln326Trp in the a2-chain (Trp2) and Arg103Trp in the a3-chain (Trp3) of collagen IX.   Methodology: Lumbar DDD was defined by MRI on 804 Southern Chinese volunteers between 18-55 years, and presence of annular tears, disc and end-plate herniations were noted.  These were correlated with the frequencies of Trp2 and Trp3 alleles. Additionally all three collagen IX genes were scanned for mutations.   Results: The Trp3 allele was absent, while the Trp2 allele was present in 20% of the population. Between 30-39 years of age, Trp2 was associated with a 4-fold increase in the risk of developing annular tears, and between 40-49 years, with a 2.4-fold increase in risk of developing DDD and end-plate herniations.  Affected Trp2 individuals had a tendency towards more severe degeneration. No additional mutations were found in the collagen IX genes.  Discussion: This is the largest-scale population study to date using MRI to precisely define DDD. For the first time, we demonstrated that the Trp2 allele is a significant age-dependent risk factor. Collagen IX is an extracellular matrix molecule thought to be important in the structural integrity and function of the intervertebral disc. Alteration in its structure by the presence of the amino acid tryptophan within collagen IX is likely to make the intervertebral disc more susceptible to mechanical damage, which is manifested as age-related annular tears, end-plate herniatons and nucleus degeneration. 

Association of lumbar disc degeneration with type IX collagen polymorphism (col9a2 Q326w) in Chinese

Association of lumbar disc degeneration with type IX collagen polymorphism (col9a2 Q326w) in Chinese

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