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Article: Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with Osteoporosis in southern Chinese women

TitleCommon variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with Osteoporosis in southern Chinese women
Authors
KeywordsAssociation
BMD
CRTAP
FLNB
Osteoporosis
Issue Date2010
PublisherSpringer U K. The Journal's web site is located at http://www.springer.com/medicine/orthopedics/journal/198
Citation
Osteoporosis International, 2010, v. 21 n. 6, p. 1009-1020 How to Cite?
AbstractWe performed an association study of five candidate genes within chromosome 3p14-25 in 1,080 Chinese female subjects. Polymorphisms in FLNB/CRTAP are associated with bone mineral density (BMD) in Chinese. Introduction: Chromosomal region 3p14-25 has shown strong evidence of linkage to BMD in genome-wide linkage scans. The variants responsible for this linkage signal, nonetheless, remain obscure. Methods: Thirty SNPs in five positional and functional candidate genes within 3p14-25 (PPARG, CRTAP, TDGF1, PTHR1, and FLNB) and rs7646054 in the ARHGEF3 gene were genotyped in a case-control cohort of 1,080 Chinese females. Allelic and haplotypic association were tested using logistic regression analysis implemented in PLINK software. Potential transcription factor binding sites were predicted with Mat Inspector. Results: Multiple SNPs and haplotypes in FLNB were significantly associated with BMDs, with the strongest association between lumbar spine BMD and rs9828717 (p=0.005). SNP rs7623768 and the haplotype G-C of rs4076086-rs7623768 in CRTAP were associated with femoral neck BMD (p=0.009 and p=0.003, respectively). PTHR1 showed haplotypic associations with lumbar spine and femoral neck BMD (p=0.02 and p=0.044, respectively). Nevertheless, the association between rs7646054 in ARHGEF3 and BMD observed in Caucasians was not replicated in our samples. Comparative genomics analysis indicated that rs9828717 is located within a highly conserved region. The minor T allele at rs9828717 may lead to loss of binding site for nuclear factor of activated T cells which binds and triggers the transcriptional program of osteoblasts. Conclusions: Our data suggest that variants in FLNB and CRTAP at 3p are involved in BMD regulation in southern Chinese. © International Osteoporosis Foundation and National Osteoporosis Foundation 2009.
Persistent Identifierhttp://hdl.handle.net/10722/124028
ISSN
2015 Impact Factor: 3.445
2015 SCImago Journal Rankings: 1.460
PubMed Central ID
ISI Accession Number ID
Funding AgencyGrant Number
Hong Kong Research Grant CouncilHKU7514/06M
University of Hong Kong
Bone Health Fund
KC Wong Education Foundation
Funding Information:

This project is supported by Hong Kong Research Grant Council (HKU7514/06M), seed funding for basic research, the University of Hong Kong, and the Bone Health Fund. Qing-Yang Huang is partially supported by the KC Wong Education Foundation.

References

 

DC FieldValueLanguage
dc.contributor.authorLi, GHYen_HK
dc.contributor.authorKung, AWCen_HK
dc.contributor.authorHuang, QYen_HK
dc.date.accessioned2010-10-19T04:34:17Z-
dc.date.available2010-10-19T04:34:17Z-
dc.date.issued2010en_HK
dc.identifier.citationOsteoporosis International, 2010, v. 21 n. 6, p. 1009-1020en_HK
dc.identifier.issn0937-941Xen_HK
dc.identifier.urihttp://hdl.handle.net/10722/124028-
dc.description.abstractWe performed an association study of five candidate genes within chromosome 3p14-25 in 1,080 Chinese female subjects. Polymorphisms in FLNB/CRTAP are associated with bone mineral density (BMD) in Chinese. Introduction: Chromosomal region 3p14-25 has shown strong evidence of linkage to BMD in genome-wide linkage scans. The variants responsible for this linkage signal, nonetheless, remain obscure. Methods: Thirty SNPs in five positional and functional candidate genes within 3p14-25 (PPARG, CRTAP, TDGF1, PTHR1, and FLNB) and rs7646054 in the ARHGEF3 gene were genotyped in a case-control cohort of 1,080 Chinese females. Allelic and haplotypic association were tested using logistic regression analysis implemented in PLINK software. Potential transcription factor binding sites were predicted with Mat Inspector. Results: Multiple SNPs and haplotypes in FLNB were significantly associated with BMDs, with the strongest association between lumbar spine BMD and rs9828717 (p=0.005). SNP rs7623768 and the haplotype G-C of rs4076086-rs7623768 in CRTAP were associated with femoral neck BMD (p=0.009 and p=0.003, respectively). PTHR1 showed haplotypic associations with lumbar spine and femoral neck BMD (p=0.02 and p=0.044, respectively). Nevertheless, the association between rs7646054 in ARHGEF3 and BMD observed in Caucasians was not replicated in our samples. Comparative genomics analysis indicated that rs9828717 is located within a highly conserved region. The minor T allele at rs9828717 may lead to loss of binding site for nuclear factor of activated T cells which binds and triggers the transcriptional program of osteoblasts. Conclusions: Our data suggest that variants in FLNB and CRTAP at 3p are involved in BMD regulation in southern Chinese. © International Osteoporosis Foundation and National Osteoporosis Foundation 2009.en_HK
dc.languageengen_HK
dc.publisherSpringer U K. The Journal's web site is located at http://www.springer.com/medicine/orthopedics/journal/198en_HK
dc.relation.ispartofOsteoporosis Internationalen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.rightsThe original publication is available at www.springerlink.comen_HK
dc.subjectAssociationen_HK
dc.subjectBMDen_HK
dc.subjectCRTAPen_HK
dc.subjectFLNBen_HK
dc.subjectOsteoporosisen_HK
dc.titleCommon variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with Osteoporosis in southern Chinese womenen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0937-941X&volume=21&issue=6&spage=1009&epage=1020&date=2010&atitle=Common+variants+in+FLNB/CRTAP,+not+ARHGEF3+at+3p+are+associated+with+osteoporosis+in+southern+Chinese+women-
dc.identifier.emailKung, AWC: awckung@hku.hken_HK
dc.identifier.emailHuang, QY: qyhuang@hotmail.comen_HK
dc.identifier.authorityKung, AWC=rp00368en_HK
dc.identifier.authorityHuang, QY=rp00521en_HK
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1007/s00198-009-1043-6en_HK
dc.identifier.pmid19727905-
dc.identifier.pmcidPMC2946578-
dc.identifier.scopuseid_2-s2.0-77954551407en_HK
dc.identifier.hkuros175023-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77954551407&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume21en_HK
dc.identifier.issue6en_HK
dc.identifier.spage1009en_HK
dc.identifier.epage1020en_HK
dc.identifier.isiWOS:000277204100013-
dc.publisher.placeUnited Kingdomen_HK
dc.description.otherSpringer Open Choice, 01 Dec 2010-
dc.identifier.scopusauthoridLi, GHY=35080710200en_HK
dc.identifier.scopusauthoridKung, AWC=7102322339en_HK
dc.identifier.scopusauthoridHuang, QY=7403630787en_HK
dc.identifier.citeulike5760737-

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