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Meta analysis identifies a novel susceptibility locus associated with heel bone strength in the Korean population

Title
Meta analysis identifies a novel susceptibility locus associated with heel bone strength in the Korean population
Author
최보율
Keywords
GWAS; Meta; Osteoporosis; SOS; Epigenetic
Issue Date
2015-12
Publisher
ELSEVIER SCIENCE INC
Citation
BONE, v. 84, Page. 47-51
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 = 2.27 x 10(-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. (C) 2015 Elsevier Inc. All rights reserved.
URI
http://www.sciencedirect.com/science/article/pii/S8756328215004275?via%3Dihubhttp://hdl.handle.net/20.500.11754/29618
ISSN
8756-3282; 1873-2763
DOI
10.1016/j.bone.2015.12.005
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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