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Title: Copy number variation in CNP267 region may be associated with hip bone size
Authors: Liu 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.
Keywords: androgen receptor
four and a half LIM domains 2 protein
somatomedin binding protein 5
transcription factor
unclassified drug
body size
bone metabolism
chromosome 2q
controlled study
copy number variation
FHL2 gene
gene function
gene location
gene mapping
gene replication
genetic association
genetic polymorphism
human cell
human tissue
promoter region
regulator gene
single nucleotide polymorphism
transcription regulation
United States
chromosome 2
ethnic group
organ size
Asian Continental Ancestry Group
Bone and Bones
Chromosomes, Human, Pair 2
DNA Copy Number Variations
Ethnic Groups
European Continental Ancestry Group
Genetic Association Studies
Organ Size
Issue Date: 2011
Citation: Liu 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.
Rights: Attribution 4.0 International
Abstract: Osteoporotic 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.
Source Title: PLoS ONE
ISSN: 19326203
DOI: 10.1371/journal.pone.0022035
Rights: Attribution 4.0 International
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