META-ANALYSIS IDENTIFIES A NOVEL LOCUS ASSOCIATED WITH QUANTITATIVE ULTRASOUND IN THE KOREAN POPULATION
- Title
- META-ANALYSIS IDENTIFIES A NOVEL LOCUS ASSOCIATED WITH QUANTITATIVE ULTRASOUND IN THE KOREAN POPULATION
- Author
- 김미경
- Keywords
- GWAS; Meta; Osteoporosis; SOS; Epigenetic.
- Issue Date
- 2013-04
- Publisher
- Springer London LTD
- Citation
- Osteoporosis International, Apr 2013, 24, P.S303-303
- Abstract
- Introduction: Calcaneal quantitative ultrasound has been recognized as a non-invasive method for evaluation of bone strength and prediction of osteoporotic fracture. Methods: To extend a thorough genetic catalog for osteoporotic bone properties, we performed a genome-wide association study (rural cohort I, n=1895) of speed of sound (SOS) using the 1000 genome-based imputation in the discovery stage and then carried out in silico lookups (rural cohort II and III, n=2,967) and de novo genotyping (rural cohort IV, n=4,296) in the replication stage. Results: In the combined meta-analysis (n=9,158), we identified a novel variant associated with SOS (rs2445771 in the GLDN gene, P=2.27x10 -9 ) reaching genome-wide significance in the Korean population. We further demonstrated that allele-specific regulatory modifications found to be associated with functional enrichments by ENCODE annotations. Conclusion: Our findings could provide additional insights into understanding of genetic and epigenetic regulations on bone metabolism.
- URI
- http://www.thebonejournal.com/article/S8756-3282(15)00427-5/fulltexthttp://hdl.handle.net/20.500.11754/52914
- ISSN
- 0937-941X
- DOI
- 10.1016/j.bone.2015.12.005
- Appears in Collections:
- COLLEGE OF MEDICINE[S](의과대학) > ETC
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