title: Association of TIMP-4 gene polymorphism with the risk of osteoarthritis in the Korean population.
abstract: Due to an imbalance in the MMP:TIMP ratio determined a tissue damage in arthritis, it is hypothesized that polymorphic variations of the TIMP genes are associated with regulation of the MMP:TIMP balance. To test this hypothesis, the presence of single nucleotide polymorphisms (SNPs) located in the human TIMP-2 and TIMP-4 genes was confirmed in the Korean RA and OA patients. We performed a case-control study comprising 109 unrelated Korean OA patients, 177 unrelated Korean RA patients and 175 healthy subjects. There were statistically significant differences in the genotype distribution and allele frequencies of the C/T polymorphism of TIMP-4 gene between OA and control groups (P = 0.0002 and P = 0.001, respectively). However, no significant association between TIMP-2 polymorphisms and OA was observed. Also, no difference was observed when allele or genotype frequencies of both TIMP-2 and TIMP-4 gene polymorphisms were compared between RA and controls. We demonstrated that the C/T polymorphism which is located on the 3'-untranslational regions of the TIMP-4 gene might be associated with susceptibility to OA patients.
authors.affiliation: Department of Pharmacology, College of Medicine, Kangwon National University, Hyoja, Chuncheon, 200-701, Republic of Korea.
authors.forename: H J
authors.initials: HJ
authors.lastname: Lee
authors.forename: G H
authors.initials: GH
authors.lastname: Lee
authors.forename: S
authors.initials: S
authors.lastname: Nah
authors.forename: K H
authors.initials: KH
authors.lastname: Lee
authors.forename: H
authors.initials: H
authors.lastname: Yang
authors.forename: Y M
authors.initials: YM
authors.lastname: Kim
authors.forename: W
authors.initials: W
authors.lastname: Chun
authors.forename: S
authors.initials: S
authors.lastname: Hong
authors.forename: S
authors.initials: S
authors.lastname: Kim
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics*; D000368:Aged; D001172:Arthritis, Rheumatoid; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007723:Korea; D008297:Male; D008875:Middle Aged; D010003:Osteoarthritis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D019716:Tissue Inhibitor of Metalloproteinase-2 / Q000235:genetics; D019714:Tissue Inhibitor of Metalloproteinases / Q000235:genetics*; D000097792:Tissue Inhibitor of Metalloproteinase-4
chemical_list: D020413:3' Untranslated Regions; D019716:Tissue Inhibitor of Metalloproteinase-2; D019714:Tissue Inhibitor of Metalloproteinases; D000097792:Tissue Inhibitor of Metalloproteinase-4