Please use this identifier to cite or link to this item: https://doi.org/10.1371/journal.pone.0022035
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dc.titleCopy number variation in CNP267 region may be associated with hip bone size
dc.contributor.authorLiu S.-L.
dc.contributor.authorLei S.-F.
dc.contributor.authorYang F.
dc.contributor.authorLi X.
dc.contributor.authorLiu R.
dc.contributor.authorNie S.
dc.contributor.authorLiu X.-G.
dc.contributor.authorYang T.-L.
dc.contributor.authorGuo Y.
dc.contributor.authorDeng F.-Y.
dc.contributor.authorTian Q.
dc.contributor.authorLi J.
dc.contributor.authorLiu Y.-Z.
dc.contributor.authorLiu Y.-J.
dc.contributor.authorShen H.
dc.contributor.authorDeng H.-W.
dc.date.accessioned2019-11-11T08:39:17Z
dc.date.available2019-11-11T08:39:17Z
dc.date.issued2011
dc.identifier.citationLiu S.-L., Lei S.-F., Yang F., Li X., Liu R., Nie S., Liu X.-G., Yang T.-L., Guo Y., Deng F.-Y., Tian Q., Li J., Liu Y.-Z., Liu Y.-J., Shen H., Deng H.-W. (2011). Copy number variation in CNP267 region may be associated with hip bone size. PLoS ONE 6 (7) : e22035. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0022035
dc.identifier.issn19326203
dc.identifier.urihttps://scholarbank.nus.edu.sg/handle/10635/162041
dc.description.abstractOsteoporotic hip fracture (HF) is a serious global public health problem associated with high morbidity and mortality. Hip bone size (BS) has been identified as one of key measurable risk factors for HF, independent of bone mineral density (BMD). Hip BS is highly genetically determined, but genetic factors underlying BS variation are still poorly defined. Here, we performed an initial genome-wide copy number variation (CNV) association analysis for hip BS in 1,627 Chinese Han subjects using Affymetrix GeneChip Human Mapping SNP 6.0 Array and a follow-up replicate study in 2,286 unrelated US Caucasians sample. We found that a copy number polymorphism (CNP267) located at chromosome 2q12.2 was significantly associated with hip BS in both initial Chinese and replicate Caucasian samples with p values of 4.73E-03 and 5.66E-03, respectively. An important candidate gene, four and a half LIM domains 2 (FHL2), was detected at the downstream of CNP267, which plays important roles in bone metabolism by binding to several bone formation regulator, such as insulin-like growth factor-binding protein 5 (IGFBP-5) and androgen receptor (AR). Our findings suggest that CNP267 region may be associated with hip BS which might influence the FHL2 gene downstream. © 2011 Liu et al.
dc.sourceUnpaywall
dc.subjectandrogen receptor
dc.subjectfour and a half LIM domains 2 protein
dc.subjectsomatomedin binding protein 5
dc.subjecttranscription factor
dc.subjectunclassified drug
dc.subjectadult
dc.subjectarticle
dc.subjectbody size
dc.subjectbone metabolism
dc.subjectCaucasian
dc.subjectChinese
dc.subjectchromosome 2q
dc.subjectcontrolled study
dc.subjectcopy number variation
dc.subjectfemale
dc.subjectFHL2 gene
dc.subjectgene function
dc.subjectgene location
dc.subjectgene mapping
dc.subjectgene replication
dc.subjectgenetic association
dc.subjectgenetic polymorphism
dc.subjecthip
dc.subjecthuman
dc.subjecthuman cell
dc.subjecthuman tissue
dc.subjectmale
dc.subjectpromoter region
dc.subjectregulator gene
dc.subjectsingle nucleotide polymorphism
dc.subjecttranscription regulation
dc.subjectUnited States
dc.subjectAsian
dc.subjectbone
dc.subjectchromosome 2
dc.subjectethnic group
dc.subjectgenetics
dc.subjecthistology
dc.subjectorgan size
dc.subjectAdult
dc.subjectAsian Continental Ancestry Group
dc.subjectBone and Bones
dc.subjectChromosomes, Human, Pair 2
dc.subjectDNA Copy Number Variations
dc.subjectEthnic Groups
dc.subjectEuropean Continental Ancestry Group
dc.subjectFemale
dc.subjectGenetic Association Studies
dc.subjectHip
dc.subjectHumans
dc.subjectMale
dc.subjectOrgan Size
dc.typeArticle
dc.contributor.departmentDEPT OF CHEMISTRY
dc.contributor.departmentDEPT OF MICROBIOLOGY & IMMUNOLOGY
dc.description.doi10.1371/journal.pone.0022035
dc.description.sourcetitlePLoS ONE
dc.description.volume6
dc.description.issue7
dc.description.pagee22035
dc.published.statePublished
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