Genomics & Informatics

Korea Genome Organization (한국유전체학회)
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Genome-wide Association Study Identification of a New Genetic Locus with Susceptibility to Osteoporotic Fracture in the Korean Population

  • Hwang, Joo-Yeon (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Lee, Seung-Hun (Division of Endocrinology and Metabolism, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Go, Min-Jin (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Kim, Beom-Jun (Division of Endocrinology and Metabolism, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Kim, Young-Jin (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Kim, Dong-Joon (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Oh, Ji-Hee (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Koo, Hee-Jo (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Cha, My-Jung (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Lee, Min-Hye (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Yun, Ji-Young (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Yoo, Hye-Sook (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Kang, Young-Ah (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Oh, Ki-Won (Department of Internal Medicine, Sungkyunkwan University School of Medicine) ;
  • Kang, Moo-Il (Department of Internal Medicine, The Catholic University of Korea School of Medicine) ;
  • Son, Ho-Young (Department of Internal Medicine, The Catholic University of Korea School of Medicine) ;
  • Kim, Shin-Yoon (Skeletal Diseases Genome Research Center, Kyungpook National University Hospital) ;
  • Kim, Ghi-Su (Division of Endocrinology and Metabolism, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Han, Bok-Ghee (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Cho, Yoon-Shin (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Koh, Jung-Min (Division of Endocrinology and Metabolism, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Lee, Jong-Young (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex)
  • Accepted : 2011.05.16
  • Published : 2011.06.30
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Abstract

Osteoporotic fracture (OF), along with bone mineral density (BMD), is an important diagnostic parameter and a clinical predictive risk factor in the assessment of osteoporosis in the elderly population. However, a genome-wide association study (GWAS) on OF has not yet been clarified sufficiently. To identify OF-associated genetic variants and candidate genes, we conducted a GWAS in a population-based cohort (Korean Association Resource [KARE], n=1,427 [case: 288 and control: 1139]) and performed a de novo replication study in hospital-based individuals (Asan and Catholic Medical Center [ACMC], n=1,082 [case: 272 and control: 810]). In a combined meta-analysis, a newly identified genetic locus in an intergenic region at 10p11.2 (near genes FZD8 and ANKRD30A ) showed the most significant association (odd ratio [OR] = 2.00, 95% confidence interval [CI] = 1.47~2.74, p=$1.27{\times}10^{-6}$) in the same direction. We provide the first evidence for a common genetic variant influencing OF and genetic information for further investigation in bone metabolism.

Keywords

References

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