Genomics & Informatics

Korea Genome Organization (한국유전체학회)
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Genome-wide Association Study Identified TIMP2 Genetic Variant with Susceptibility to Osteoarthritis

  • Keam, Bhum-Suk (Department of Internal Medicine, Seoul National University Hospital) ;
  • Hwang, Joo-Yeon (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Go, Min-Jin (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Heo, Jee-Yeon (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Park, Mi-Sun (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Lee, Ji-Young (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Kim, Nam-Hee (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Park, Miey (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) ;
  • Kim, Dong-Hyun (Department of Social and Preventive Medicine, College of Medicine, Hallym University) ;
  • Jeong, Jin-Young (Institute of Aging, Hallym University) ;
  • Lee, Jong-Young (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Han, Bok-Ghee (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex) ;
  • Lee, Ju-Young (Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex)
  • Accepted : 2011.07.01
  • Published : 2011.09.30
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Abstract

Osteoarthritis (OA) is the most common degenerative joint disorder in the elderly population. To identify OA-associated genetic variants and candidate genes, we conducted a genome-wide association study (GWAS). A total 3,793 samples (476 cases: wrist + knee and 3317 controls) from a community-based epidemiological study were genotyped using the Affymetrix SNP 5.0. An intronic SNP (rs4789934) in the TIMP2 (tissue inhibitor of metalloproteinase-2) showed the most significance with OA (odd ratio [OR] = 2.06, 95% confidence interval [CI] = 1.52-2.81, p = $4.01{\times}10^{-6}$). Furthermore, a poly-morphism (rs1352677) in the NKAIN2 ($Na^+/K^+$ transporting ATPase interacting 2) was suggestively associated with OA (OR = 1.43, CI = 1.22-1.66, p = $7.01{\times}10^{-6}$). The present study provides new insights into the identification of genetic predisposing factors for OA.

Keywords

References

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