• Title/Summary/Keyword: KARE cohort

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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;Lee, Seung-Hun;Go, Min-Jin;Kim, Beom-Jun;Kim, Young-Jin;Kim, Dong-Joon;Oh, Ji-Hee;Koo, Hee-Jo;Cha, My-Jung;Lee, Min-Hye;Yun, Ji-Young;Yoo, Hye-Sook;Kang, Young-Ah;Oh, Ki-Won;Kang, Moo-Il;Son, Ho-Young;Kim, Shin-Yoon;Kim, Ghi-Su;Han, Bok-Ghee;Cho, Yoon-Shin;Koh, Jung-Min;Lee, Jong-Young
    • Genomics & Informatics
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    • v.9 no.2
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    • pp.52-58
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    • 2011
  • 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.