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Article: Hip geometry variation is associated with bone mineralization pathway gene variants: The Framingham study

TitleHip geometry variation is associated with bone mineralization pathway gene variants: The Framingham study
Authors
Issue Date2010
PublisherAmerican Society for Bone and Mineral Research. The Journal's web site is located at http://www.jbmr.org/view/0/index.html
Citation
Journal Of Bone And Mineral Research, 2010, v. 25 n. 7, p. 1564-1571 How to Cite?
AbstractMineralization of bone matrix is an important process in bone formation; thus defects in mineralization have been implicated in bone mineral density (BMD) and bone structure alterations. Three central regulators of phosphate balance, ALPL, ANKH, and ENPP1, are central in the matrix mineralization process; therefore, the genes encoding them are considered important candidates genes for BMD and bone geometry. To test for an association between these three candidate genes and BMD and bone geometry traits, 124 informative single-nucleotide polymorphisms (SNPs) were selected and genotyped in 1513 unrelated subjects from the Framingham offspring cohort. Initial results showed that SNP rs1974201 in the gene ENPP1 was a susceptibility variant associated with several hip geometric indices, with the strongest p value of 3.8×10 -7 being observed for femoral neck width. A few modest associations were observed between SNPs in or near ALPL and several bone traits, but no association was observed with ANKH. The association signals observed for SNPs around rs1974201 were attenuated after conditional analysis on rs1974201. Transcription factor binding-site prediction revealed that the HOXA7 binding site was present in the reference sequence with the major allele, whereas this potential binding site is lost in the sequence with the minor allele of rs1974201. In conclusion, we found evidence for association of bone geometry variation with an SNP in ENPP1, a gene in the mineralization pathway. The alteration of a binding site of the deregulator of extracellular matrix HOXA7 warrants further investigation. © 2010 American Society for Bone and Mineral Research.
Persistent Identifierhttp://hdl.handle.net/10722/183378
ISSN
2015 Impact Factor: 5.622
2015 SCImago Journal Rankings: 2.773
PubMed Central ID
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorCheung, CLen_HK
dc.contributor.authorLivshits, Gen_HK
dc.contributor.authorZhou, Yen_HK
dc.contributor.authorMeigs, JBen_HK
dc.contributor.authorMcAteer, JBen_HK
dc.contributor.authorFlorez, JCen_HK
dc.contributor.authorCupples, LAen_HK
dc.contributor.authorDemissie, Sen_HK
dc.contributor.authorKiel, DPen_HK
dc.contributor.authorKarasik, Den_HK
dc.date.accessioned2013-05-27T03:01:38Z-
dc.date.available2013-05-27T03:01:38Z-
dc.date.issued2010en_HK
dc.identifier.citationJournal Of Bone And Mineral Research, 2010, v. 25 n. 7, p. 1564-1571en_HK
dc.identifier.issn0884-0431en_HK
dc.identifier.urihttp://hdl.handle.net/10722/183378-
dc.description.abstractMineralization of bone matrix is an important process in bone formation; thus defects in mineralization have been implicated in bone mineral density (BMD) and bone structure alterations. Three central regulators of phosphate balance, ALPL, ANKH, and ENPP1, are central in the matrix mineralization process; therefore, the genes encoding them are considered important candidates genes for BMD and bone geometry. To test for an association between these three candidate genes and BMD and bone geometry traits, 124 informative single-nucleotide polymorphisms (SNPs) were selected and genotyped in 1513 unrelated subjects from the Framingham offspring cohort. Initial results showed that SNP rs1974201 in the gene ENPP1 was a susceptibility variant associated with several hip geometric indices, with the strongest p value of 3.8×10 -7 being observed for femoral neck width. A few modest associations were observed between SNPs in or near ALPL and several bone traits, but no association was observed with ANKH. The association signals observed for SNPs around rs1974201 were attenuated after conditional analysis on rs1974201. Transcription factor binding-site prediction revealed that the HOXA7 binding site was present in the reference sequence with the major allele, whereas this potential binding site is lost in the sequence with the minor allele of rs1974201. In conclusion, we found evidence for association of bone geometry variation with an SNP in ENPP1, a gene in the mineralization pathway. The alteration of a binding site of the deregulator of extracellular matrix HOXA7 warrants further investigation. © 2010 American Society for Bone and Mineral Research.en_HK
dc.languageeng-
dc.publisherAmerican Society for Bone and Mineral Research. The Journal's web site is located at http://www.jbmr.org/view/0/index.htmlen_HK
dc.relation.ispartofJournal of Bone and Mineral Researchen_HK
dc.subject.meshAgeden_HK
dc.subject.meshAlkaline Phosphatase - geneticsen_HK
dc.subject.meshBinding Sites - geneticsen_HK
dc.subject.meshBone Densityen_HK
dc.subject.meshCalcification, Physiologic - geneticsen_HK
dc.subject.meshCohort Studiesen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshGenotypeen_HK
dc.subject.meshHip - anatomy & histologyen_HK
dc.subject.meshHomeodomain Proteins - geneticsen_HK
dc.subject.meshHumansen_HK
dc.subject.meshMaleen_HK
dc.subject.meshMiddle Ageden_HK
dc.subject.meshOsteoporosis - genetics - physiopathologyen_HK
dc.subject.meshPhosphate Transport Proteins - geneticsen_HK
dc.subject.meshPhosphoric Diester Hydrolases - geneticsen_HK
dc.subject.meshPolymorphism, Single Nucleotideen_HK
dc.subject.meshPyrophosphatases - geneticsen_HK
dc.titleHip geometry variation is associated with bone mineralization pathway gene variants: The Framingham studyen_HK
dc.typeArticleen_HK
dc.identifier.emailCheung, CL: lung1212@hku.hken_HK
dc.identifier.authorityCheung, CL=rp01749en_HK
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1359/jbmr.091102en_HK
dc.identifier.pmid19888898-
dc.identifier.pmcidPMC3312740-
dc.identifier.scopuseid_2-s2.0-77954738582en_HK
dc.identifier.hkuros192165-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77954738582&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume25en_HK
dc.identifier.issue7en_HK
dc.identifier.spage1564en_HK
dc.identifier.epage1571en_HK
dc.identifier.isiWOS:000280395900012-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridCheung, CL=14520953400en_HK
dc.identifier.scopusauthoridLivshits, G=7004831571en_HK
dc.identifier.scopusauthoridZhou, Y=23053503600en_HK
dc.identifier.scopusauthoridMeigs, JB=7006125159en_HK
dc.identifier.scopusauthoridMcAteer, JB=23019456300en_HK
dc.identifier.scopusauthoridFlorez, JC=7005907043en_HK
dc.identifier.scopusauthoridCupples, LA=7007090535en_HK
dc.identifier.scopusauthoridDemissie, S=35292066400en_HK
dc.identifier.scopusauthoridKiel, DP=7005526959en_HK
dc.identifier.scopusauthoridKarasik, D=7004384589en_HK

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