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Article: The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration

TitleThe TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration
Authors
KeywordsCOL9A2
COL9A3
Collagen
Degenerative disc disease
Genetics
Intervertebral disc degeneration
Trp2
Trp3
Issue Date2005
PublisherLippincott, Williams & Wilkins. The Journal's web site is located at http://www.spinejournal.com
Citation
Spine, 2005, v. 30 n. 24, p. 2735-2742 How to Cite?
AbstractStudy Design. Low back pain (LBP) and sciatica are usually caused by degenerative disc disease (DDD). Although they are common, the etiology of these conditions is poorly understood. A large population case-control study in the Southern Chinese was performed to study genetic risk factors to DDD. Objectives. To gain a better understanding of the etiology of DDD in relation to structural defects of the intervertebral disc. Summary of Background Data. A Finnish study found an association between LBP and sciatica with two variants of the α-chains of collagen IX, encoded by the Trp2 and Trp3 alleles, representing Gln326Trp and Arg103Trp amino acid substitutions in the COL9A2 and COL9A3 genes, respectively. Trp2 was found only in affected individuals (4%), whereas Trp3 was present in both affected (24%) and unaffected (9%) individuals. Because of the low frequency of the Trp2 allele in whites, the significance and contribution of this allele to DDD are not known. Using more objective criteria to define the disease by magnetic resonance imaging (MRI), we tested these alleles for association with DDD in a large population study. Methods. Lumbar DDD, the presence of anular tears, and disc and endplate herniations were defined by MRI in 804 Southern Chinese volunteers 18 to 55 years of age. These were correlated with the frequencies of the Trp2 and Trp3 alleles. Results. The Trp2 allele was present in 20% of the population and was associated with a fourfold increase in the risk of developing anular tears at 30 to 39 years and a 2.4-fold increase in the risk of developing DDD and end-plate herniations at 40 to 49 years. Affected Trp2 individuals had more severe degeneration. The Trp3 allele was absent from the Southern Chinese population. Conclusion. This largest-ever population study using MRI to define DDD demonstrates for the first time that the Trp2 allele is a significant risk factor for the development and severity of degeneration. The association is age-dependent as it is more prevalent in some age groups than in others. The contrasting Trp allele frequencies between the Finns and the Chinese are the first indication that the genetic risk factors for DDD varies between ethnic groups. ©2005, Lippincott Williams & Wilkins, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/68035
ISSN
2015 Impact Factor: 2.439
2015 SCImago Journal Rankings: 1.459
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorJim, JJTen_HK
dc.contributor.authorNoponenHietala, Nen_HK
dc.contributor.authorCheung, KMCen_HK
dc.contributor.authorOtt, Jen_HK
dc.contributor.authorKarppinen, Jen_HK
dc.contributor.authorSahraravand, Aen_HK
dc.contributor.authorLuk, KDKen_HK
dc.contributor.authorYip, SPen_HK
dc.contributor.authorSham, PCen_HK
dc.contributor.authorSong, YQen_HK
dc.contributor.authorLeong, JCYen_HK
dc.contributor.authorCheah, KSEen_HK
dc.contributor.authorAlaKokko, Len_HK
dc.contributor.authorChan, Den_HK
dc.date.accessioned2010-09-06T06:00:43Z-
dc.date.available2010-09-06T06:00:43Z-
dc.date.issued2005en_HK
dc.identifier.citationSpine, 2005, v. 30 n. 24, p. 2735-2742en_HK
dc.identifier.issn0362-2436en_HK
dc.identifier.urihttp://hdl.handle.net/10722/68035-
dc.description.abstractStudy Design. Low back pain (LBP) and sciatica are usually caused by degenerative disc disease (DDD). Although they are common, the etiology of these conditions is poorly understood. A large population case-control study in the Southern Chinese was performed to study genetic risk factors to DDD. Objectives. To gain a better understanding of the etiology of DDD in relation to structural defects of the intervertebral disc. Summary of Background Data. A Finnish study found an association between LBP and sciatica with two variants of the α-chains of collagen IX, encoded by the Trp2 and Trp3 alleles, representing Gln326Trp and Arg103Trp amino acid substitutions in the COL9A2 and COL9A3 genes, respectively. Trp2 was found only in affected individuals (4%), whereas Trp3 was present in both affected (24%) and unaffected (9%) individuals. Because of the low frequency of the Trp2 allele in whites, the significance and contribution of this allele to DDD are not known. Using more objective criteria to define the disease by magnetic resonance imaging (MRI), we tested these alleles for association with DDD in a large population study. Methods. Lumbar DDD, the presence of anular tears, and disc and endplate herniations were defined by MRI in 804 Southern Chinese volunteers 18 to 55 years of age. These were correlated with the frequencies of the Trp2 and Trp3 alleles. Results. The Trp2 allele was present in 20% of the population and was associated with a fourfold increase in the risk of developing anular tears at 30 to 39 years and a 2.4-fold increase in the risk of developing DDD and end-plate herniations at 40 to 49 years. Affected Trp2 individuals had more severe degeneration. The Trp3 allele was absent from the Southern Chinese population. Conclusion. This largest-ever population study using MRI to define DDD demonstrates for the first time that the Trp2 allele is a significant risk factor for the development and severity of degeneration. The association is age-dependent as it is more prevalent in some age groups than in others. The contrasting Trp allele frequencies between the Finns and the Chinese are the first indication that the genetic risk factors for DDD varies between ethnic groups. ©2005, Lippincott Williams & Wilkins, Inc.en_HK
dc.languageengen_HK
dc.publisherLippincott, Williams & Wilkins. The Journal's web site is located at http://www.spinejournal.comen_HK
dc.relation.ispartofSpineen_HK
dc.subjectCOL9A2en_HK
dc.subjectCOL9A3en_HK
dc.subjectCollagenen_HK
dc.subjectDegenerative disc diseaseen_HK
dc.subjectGeneticsen_HK
dc.subjectIntervertebral disc degenerationen_HK
dc.subjectTrp2en_HK
dc.subjectTrp3en_HK
dc.subject.meshAdolescenten_HK
dc.subject.meshAdulten_HK
dc.subject.meshAge Factorsen_HK
dc.subject.meshAllelesen_HK
dc.subject.meshAsian Continental Ancestry Group - geneticsen_HK
dc.subject.meshCase-Control Studiesen_HK
dc.subject.meshCollagen Type IX - geneticsen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshGenetic Variation - geneticsen_HK
dc.subject.meshHumansen_HK
dc.subject.meshIntervertebral Disc - pathologyen_HK
dc.subject.meshMaleen_HK
dc.subject.meshMiddle Ageden_HK
dc.subject.meshRisk Factorsen_HK
dc.subject.meshSeverity of Illness Indexen_HK
dc.subject.meshSpinal Diseases - etiology - genetics - pathologyen_HK
dc.titleThe TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degenerationen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0887-9869&volume=30&spage=2735&epage=2742&date=2005&atitle=The+TRP2+allele+of+COL9A2+is+an+age-dependent+risk+factor+for+the+development+and+severity+of+intervertebral+disc+degenerationen_HK
dc.identifier.emailCheung, KMC: cheungmc@hku.hken_HK
dc.identifier.emailLuk, KDK: hcm21000@hku.hken_HK
dc.identifier.emailSham, PC: pcsham@hku.hken_HK
dc.identifier.emailSong, YQ: songy@hku.hken_HK
dc.identifier.emailCheah, KSE: hrmbdkc@hku.hken_HK
dc.identifier.emailChan, D: chand@hku.hken_HK
dc.identifier.authorityCheung, KMC=rp00387en_HK
dc.identifier.authorityLuk, KDK=rp00333en_HK
dc.identifier.authoritySham, PC=rp00459en_HK
dc.identifier.authoritySong, YQ=rp00488en_HK
dc.identifier.authorityCheah, KSE=rp00342en_HK
dc.identifier.authorityChan, D=rp00540en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1097/01.brs.0000190828.85331.efen_HK
dc.identifier.pmid16371896-
dc.identifier.scopuseid_2-s2.0-29444444139en_HK
dc.identifier.hkuros113851en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-29444444139&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume30en_HK
dc.identifier.issue24en_HK
dc.identifier.spage2735en_HK
dc.identifier.epage2742en_HK
dc.identifier.isiWOS:000234181300005-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridJim, JJT=10341020300en_HK
dc.identifier.scopusauthoridNoponenHietala, N=6507507395en_HK
dc.identifier.scopusauthoridCheung, KMC=7402406754en_HK
dc.identifier.scopusauthoridOtt, J=7202757548en_HK
dc.identifier.scopusauthoridKarppinen, J=7004560479en_HK
dc.identifier.scopusauthoridSahraravand, A=10340240500en_HK
dc.identifier.scopusauthoridLuk, KDK=7201921573en_HK
dc.identifier.scopusauthoridYip, SP=7102133673en_HK
dc.identifier.scopusauthoridSham, PC=34573429300en_HK
dc.identifier.scopusauthoridSong, YQ=7404921212en_HK
dc.identifier.scopusauthoridLeong, JCY=35560782200en_HK
dc.identifier.scopusauthoridCheah, KSE=35387746200en_HK
dc.identifier.scopusauthoridAlaKokko, L=7005509196en_HK
dc.identifier.scopusauthoridChan, D=7402216545en_HK

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