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http://dx.doi.org/10.5808/GI.2011.9.3.121

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)
Publication Information
Genomics & Informatics / v.9, no.3, 2011 , pp. 121-126 More about this Journal
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
genome-wide association study; osteoarthritis; polymorphism; TIMP2;
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