Genome-wide Association Study Identified TIMP2 Genetic Variant with Susceptibility to Osteoarthritis

• Published in: Genomics & informatics Vol. 9; no. 3; pp. 121 - 126
• Main Authors: Keam, Bhum-Suk, Hwang, Joo-Yeon, Go, Min-Jin, Heo, Jee-Yeon, Park, Mi-Sun, Lee, Ji-Young, Kim, Nam-Hee, Park, Miey, Oh, Ji-Hee, Kim, Dong-Hyun, Jeong, Jin-Young, Lee, Jong-Young, Han, Bok-Ghee, Lee, Ju-Young
• Format: Journal Article
• Language: English
• Published: 한국유전체학회 30.09.2011
• Subjects: 자연과학일반
• ISSN: 1598-866X; 2234-0742
• DOI: 10.5808/GI.2011.9.3.121

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 × 10^(-6)). Furthermore, a polymorphism (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 ×10^(-6)). The present study provides new insights into the identification of genetic predisposing factors for OA. KCI Citation Count: 0