• English
    • íslenska
  • English 
    • English
    • íslenska
  • Login
View Item 
  •   Home
  • Journal Articles, Peer Reviewed (Ritrýndar vísindagreinar)
  • English Journal Articles (Peer Reviewed)
  • View Item
  •   Home
  • Journal Articles, Peer Reviewed (Ritrýndar vísindagreinar)
  • English Journal Articles (Peer Reviewed)
  • View Item
JavaScript is disabled for your browser. Some features of this site may not work without it.

Browse

All of HirslaCommunitiesAuthorsTitleSubjectsSubject (MeSH)Issue DateJournalThis CollectionAuthorsTitleSubjectsSubject (MeSH)Issue DateJournal

My Account

LoginRegister

Local Links

FAQ - (Icelandic)FAQ - (English)Hirsla LogosAbout LandspitaliLSH Home PageLibrary HomeIcelandic Journals

Statistics

Display statistics

Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies.

  • CSV
  • RefMan
  • EndNote
  • BibTex
  • RefWorks
Thumbnail
Name:
Publisher version
View Source
Access full-text PDFOpen Access
View Source
Check access options
Check access options
Average rating
 
   votes
Cast your vote
You can rate an item by clicking the amount of stars they wish to award to this item. When enough users have cast their vote on this item, the average rating will also be shown.
Star rating
 
Your vote was cast
Thank you for your feedback
Authors
Kung, Annie W C
Xiao, Su-Mei
Cherny, Stacey
Li, Gloria H Y
Gao, Yi
Tso, Gloria
Lau, Kam S
Luk, Keith D K
Liu, Jian-min
Cui, Bin
Zhang, Min-Jia
Zhang, Zhen-lin
He, Jin-wei
Yue, Hua
Xia, Wia-bo
Luo, Lian-mei
He, Shu-li
Kiel, Douglas P
Karasik, David
Hsu, Yi-Hsiang
Cupples, L Adrienne
Demissie, Serkalem
Styrkarsdottir, Unnur
Halldorsson, Bjarni V
Sigurdsson, Gunnar
Thorsteinsdottir, Unnur
Stefansson, Kari
Richards, J Brent
Zhai, Guangju
Soranzo, Nicole
Valdes, Ana
Spector, Tim D
Sham, Pak C
Show allShow less
Issue Date
2010-02-12

Metadata
Show full item record
Citation
Am. J. Hum. Genet. 2010, 86(2):229-39
Abstract
Bone mineral density (BMD), a diagnostic parameter for osteoporosis and a clinical predictor of fracture, is a polygenic trait with high heritability. To identify genetic variants that influence BMD in different ethnic groups, we performed a genome-wide association study (GWAS) on 800 unrelated Southern Chinese women with extreme BMD and carried out follow-up replication studies in six independent study populations of European descent and Asian populations including 18,098 subjects. In the meta-analysis, rs2273061 of the Jagged1 (JAG1) gene was associated with high BMD (p = 5.27 x 10(-8) for lumbar spine [LS] and p = 4.15 x 10(-5) for femoral neck [FN], n = 18,898). This SNP was further found to be associated with the low risk of osteoporotic fracture (p = 0.009, OR = 0.7, 95% CI 0.57-0.93, n = 1881). Region-wide and haplotype analysis showed that the strongest association evidence was from the linkage disequilibrium block 5, which included rs2273061 of the JAG1 gene (p = 8.52 x 10(-9) for LS and 3.47 x 10(-5) at FN). To assess the function of identified variants, an electrophoretic mobility shift assay demonstrated the binding of c-Myc to the "G" but not "A" allele of rs2273061. A mRNA expression study in both human bone-derived cells and peripheral blood mononuclear cells confirmed association of the high BMD-related allele G of rs2273061 with higher JAG1 expression. Our results identify the JAG1 gene as a candidate for BMD regulation in different ethnic groups, and it is a potential key factor for fracture pathogenesis.
Description
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links
http://dx.doi.org/10.1016/j.ajhg.2009.12.014
ae974a485f413a2113503eed53cd6c53
10.1016/j.ajhg.2009.12.014
Scopus Count
Collections
English Journal Articles (Peer Reviewed)

entitlement

 

DSpace software (copyright © 2002 - 2021)  DuraSpace
Quick Guide | Contact Us
Open Repository is a service operated by 
Atmire NV
 

Export search results

The export option will allow you to export the current search results of the entered query to a file. Different formats are available for download. To export the items, click on the button corresponding with the preferred download format.

By default, clicking on the export buttons will result in a download of the allowed maximum amount of items.

To select a subset of the search results, click "Selective Export" button and make a selection of the items you want to export. The amount of items that can be exported at once is similarly restricted as the full export.

After making a selection, click one of the export format buttons. The amount of items that will be exported is indicated in the bubble next to export format.