Genome-wide Association Study Identified TIMP2 Genetic Variant with Susceptibility to Osteoarthritis.
- Author:
Bhumsuk KEAM
1
;
Joo Yeon HWANG
;
Min Jin GO
;
Jee Yeon HEO
;
Mi Sun PARK
;
Ji Young LEE
;
Nam Hee KIM
;
Miey PARK
;
Ji Hee OH
;
Dong Hyun KIM
;
Jin Young JEONG
;
Jong Young LEE
;
Bok Ghee HAN
;
Juyoung LEE
Author Information
1. Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex, Chungcheongbuk-do 363-951, Korea. jylee@cdc.go.kr
- Publication Type:Original Article
- Keywords:
genome-wide association study;
osteoarthritis;
polymorphism;
TIMP2
- MeSH:
Adenosine Triphosphatases;
Aged;
Epidemiologic Studies;
Genome-Wide Association Study;
Humans;
Introns;
Joints;
Knee;
Osteoarthritis;
Wrist
- From:Genomics & Informatics
2011;9(3):121-126
- CountryRepublic of Korea
- Language:English
-
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 x 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 x 10(-6)). The present study provides new insights into the identification of genetic predisposing factors for OA.
