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Article: Association between promoter - 1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese

TitleAssociation between promoter - 1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese
Authors
Issue Date2008
PublisherBioMed Central Ltd. The Journal's web site is located at http://www.biomedcentral.com/bmcmedgenet/
Citation
Bmc Medical Genetics, 2008, v. 9, article no. 38 How to Cite?
AbstractBackground: Matrix metalloproteinases (MMPs) are involved in the degradation of the extracellular matrix of the intervertebral disc. A SNP for guanine insertion/deletion (G/D), the -1607 promoter polymorphism, of the MMP1 gene was found significantly affecting promoter activity and corresponding transcription level. Hence it is a good candidate for genetic studies in DDD. Methods: Southern Chinese volunteers between 18 and 55 years were recruited from the population. DDD in the lumbar spine was defined by MRI using Schneiderman's classification. Genomic DNA was isolated from the leukocytes and genotyping was performed using the Sequenom® platform. Association and Hardy-Weinberg equilibrium checking were assessed by Chi-square test and Mann-Whitney U test. Results: Our results showed substantial evidence of association between -1607 promoter polymorphism of MMP1 and DDD in the Southern Chinese subjects. D allelic was significantly associated with DDD (p value = 0.027, odds ratio = 1.41 with 95% CI = 1.04-1.90) while Genotypic association on the presence of D allele was also significantly associated with DDD (p value = 0.046, odds ratio = 1.50 with 95% CI = 1.01-2.24). Further age stratification showed significant genotypic as well as allelic association in the group of over 40 years (genotypic: p value = 0.035, odds ratio = 1.617 with 95% CI = 1.033-2.529; allelic: p value = 0.033, odds ratio = 1.445 with 95% CI = 1.029-2.029). Disc bulge, annular tears and the Schmorl's nodes were not associated with the D allele. Conclusion: We demonstrated that individuals with the presence of D allele for the -1607 promoter polymorphism of MMP1 are about 1.5 times more susceptible to develop DDD when compared with those having G allele only. Further association was identified in individuals over 40 years of age. Disc bulge, annular tear as well as Schmorl's nodes were not associated with this polymorphism. © 2008 Song et al; licensee BioMed Central Ltd.
Persistent Identifierhttp://hdl.handle.net/10722/57178
ISSN
2015 Impact Factor: 2.094
2015 SCImago Journal Rankings: 1.062
PubMed Central ID
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorSong, YQen_HK
dc.contributor.authorHo, DWHen_HK
dc.contributor.authorKarppinen, Jen_HK
dc.contributor.authorKao, PYPen_HK
dc.contributor.authorFan, BJen_HK
dc.contributor.authorLuk, KDKen_HK
dc.contributor.authorYip, SPen_HK
dc.contributor.authorLeong, JCYen_HK
dc.contributor.authorCheah, KSEen_HK
dc.contributor.authorSham, Pen_HK
dc.contributor.authorChan, Den_HK
dc.contributor.authorCheung, KMCen_HK
dc.date.accessioned2010-04-12T01:28:24Z-
dc.date.available2010-04-12T01:28:24Z-
dc.date.issued2008en_HK
dc.identifier.citationBmc Medical Genetics, 2008, v. 9, article no. 38en_HK
dc.identifier.issn1471-2350en_HK
dc.identifier.urihttp://hdl.handle.net/10722/57178-
dc.description.abstractBackground: Matrix metalloproteinases (MMPs) are involved in the degradation of the extracellular matrix of the intervertebral disc. A SNP for guanine insertion/deletion (G/D), the -1607 promoter polymorphism, of the MMP1 gene was found significantly affecting promoter activity and corresponding transcription level. Hence it is a good candidate for genetic studies in DDD. Methods: Southern Chinese volunteers between 18 and 55 years were recruited from the population. DDD in the lumbar spine was defined by MRI using Schneiderman's classification. Genomic DNA was isolated from the leukocytes and genotyping was performed using the Sequenom® platform. Association and Hardy-Weinberg equilibrium checking were assessed by Chi-square test and Mann-Whitney U test. Results: Our results showed substantial evidence of association between -1607 promoter polymorphism of MMP1 and DDD in the Southern Chinese subjects. D allelic was significantly associated with DDD (p value = 0.027, odds ratio = 1.41 with 95% CI = 1.04-1.90) while Genotypic association on the presence of D allele was also significantly associated with DDD (p value = 0.046, odds ratio = 1.50 with 95% CI = 1.01-2.24). Further age stratification showed significant genotypic as well as allelic association in the group of over 40 years (genotypic: p value = 0.035, odds ratio = 1.617 with 95% CI = 1.033-2.529; allelic: p value = 0.033, odds ratio = 1.445 with 95% CI = 1.029-2.029). Disc bulge, annular tears and the Schmorl's nodes were not associated with the D allele. Conclusion: We demonstrated that individuals with the presence of D allele for the -1607 promoter polymorphism of MMP1 are about 1.5 times more susceptible to develop DDD when compared with those having G allele only. Further association was identified in individuals over 40 years of age. Disc bulge, annular tear as well as Schmorl's nodes were not associated with this polymorphism. © 2008 Song et al; licensee BioMed Central Ltd.en_HK
dc.languageengen_HK
dc.publisherBioMed Central Ltd. The Journal's web site is located at http://www.biomedcentral.com/bmcmedgenet/en_HK
dc.relation.ispartofBMC Medical Geneticsen_HK
dc.rightsB M C Medical Genetics. Copyright © BioMed Central Ltd.en_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subject.meshLumbar Vertebraeen_HK
dc.subject.meshMatrix Metalloproteinase 1 - geneticsen_HK
dc.subject.meshPolymorphism, Single Nucleotideen_HK
dc.subject.meshPromoter Regions, Geneticen_HK
dc.subject.meshSpinal Diseases - geneticsen_HK
dc.titleAssociation between promoter - 1607 polymorphism of MMP1 and lumbar disc disease in Southern Chineseen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1471-2350&volume=9 article no. 38&spage=&epage=&date=2008&atitle=Association+between+promoter+-1607+polymorphism+of+MMP1+and+lumbar+disc+disease+in+Southern+Chineseen_HK
dc.identifier.emailSong, YQ: songy@hku.hken_HK
dc.identifier.emailLuk, KDK: hcm21000@hku.hken_HK
dc.identifier.emailCheah, KSE: hrmbdkc@hku.hken_HK
dc.identifier.emailSham, P: pcsham@hku.hken_HK
dc.identifier.emailChan, D: chand@hku.hken_HK
dc.identifier.emailCheung, KMC: cheungmc@hku.hken_HK
dc.identifier.authoritySong, YQ=rp00488en_HK
dc.identifier.authorityLuk, KDK=rp00333en_HK
dc.identifier.authorityCheah, KSE=rp00342en_HK
dc.identifier.authoritySham, P=rp00459en_HK
dc.identifier.authorityChan, D=rp00540en_HK
dc.identifier.authorityCheung, KMC=rp00387en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.doi10.1186/1471-2350-9-38en_HK
dc.identifier.pmid18439317en_HK
dc.identifier.pmcidPMC2386444en_HK
dc.identifier.scopuseid_2-s2.0-43849088196en_HK
dc.identifier.hkuros145967-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-43849088196&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume9en_HK
dc.identifier.spagearticle no. 38-
dc.identifier.epagearticle no. 38-
dc.identifier.isiWOS:000256300800001-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridSong, YQ=7404921212en_HK
dc.identifier.scopusauthoridHo, DWH=23502006100en_HK
dc.identifier.scopusauthoridKarppinen, J=7004560479en_HK
dc.identifier.scopusauthoridKao, PYP=24280722500en_HK
dc.identifier.scopusauthoridFan, BJ=7102879261en_HK
dc.identifier.scopusauthoridLuk, KDK=7201921573en_HK
dc.identifier.scopusauthoridYip, SP=7102133673en_HK
dc.identifier.scopusauthoridLeong, JCY=35563743000en_HK
dc.identifier.scopusauthoridCheah, KSE=35387746200en_HK
dc.identifier.scopusauthoridSham, P=34573429300en_HK
dc.identifier.scopusauthoridChan, D=7402216545en_HK
dc.identifier.scopusauthoridCheung, KMC=7402406754en_HK
dc.identifier.citeulike2733211-

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