title: Meta analysis identifies a novel susceptibility locus associated with heel bone strength in the Korean population.
abstract: BACKGROUND
  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=2.27×10(-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.
  
  
  CONCLUSIONS
  Our findings could provide additional insights into understanding of genetic and epigenetic regulations on bone metabolism.
authors.affiliation: Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex, Chungcheongbuk-do, Republic of Korea.
authors.forename: Joo-Yeon
authors.initials: JY
authors.lastname: Hwang
authors.affiliation: Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex, Chungcheongbuk-do, Republic of Korea.
authors.forename: Young Jin
authors.initials: YJ
authors.lastname: Kim
authors.affiliation: Department of Preventive Medicine, College of Medicine, Hanyang University, Seoul, Republic of Korea.
authors.forename: Bo Youl
authors.initials: BY
authors.lastname: Choi
authors.affiliation: Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex, Chungcheongbuk-do, Republic of Korea. Electronic address: kbj6181@hanmail.net.
authors.forename: Bong-Jo
authors.initials: BJ
authors.lastname: Kim
authors.affiliation: Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex, Chungcheongbuk-do, Republic of Korea. Electronic address: hanbokghee@gamil.com.
authors.forename: Bok-Ghee
authors.initials: BG
authors.lastname: Han
mesh_terms: D001696:Biomechanical Phenomena / Q000235:genetics; D002111:Calcaneus / Q000502:physiology*; D005260:Female; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D056910:Republic of Korea
keywords: Epigenetic; GWAS; Meta; Osteoporosis; SOS