TIMP-2 SNPs rs7342880 and rs4789936 are linked to risk of knee osteoarthritis in the Chinese Han Population

• Published in: Oncotarget 2017-01, Vol.8 (1), p.1166-1176
• Main Authors: Xu, Pengcheng, Guo, Wen, Jin, Tianbo, Wang, Jihong, Fan, Dongsheng, Hao, Zengtao, Jing, Shangfei, Han, ChaoQian, Du, Jieli, Jiang, Dong, Wen, Shuzheng, Wang, Jianzhong
• Format: Article
• Language: English
• Subjects: Adult; Aged; Alleles; Asian People - genetics; China; Female; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Haplotypes; Humans; Linkage Disequilibrium; Male; Middle Aged; Osteoarthritis, Knee - genetics; Osteoarthritis, Knee - pathology; Polymorphism, Single Nucleotide; Research Paper; Tissue Inhibitor of Metalloproteinase-2 - genetics
• ISSN: 1949-2553; 1949-2553
• DOI: 10.18632/oncotarget.13590

This study aimed to investigate whether functional polymorphisms in the tissue inhibitors of metalloproteinase-2 (TIMP-2) gene are associated with susceptibility to knee osteoarthritis (OA) in the Chinese Han population. Six TIMP-2 single nucleotide polymorphisms (SNPs) were assayed using MassARRAY in 300 patients clinically and radiographically diagnosed with knee OA and in 428 controls. Allelic and genotypic frequencies were compared between groups. Logistic regression adjusting for age and gender was used to estimate risk associations between specific genotypes and knee OA by computing odds ratios (ORs) and 95% confidence intervals (95% CIs). We found that allele "A" in rs7342880 was significantly associated with increased risk of knee OA (OR = 1.44, 95%CI = 1.09-1.91, p = 0.035). In addition, in the over-dominant model, rs4789936 correlated with reduced risk of knee OA, adjusting for age and gender (OR = 0.69, 95%CI = 0.49-0.98, p = 0.036). Finally, rs7342880 correlated with increased risk of knee OA in females. This study provides evidence that TIMP-2 is a knee OA susceptibility gene in the Chinese population and a potential diagnostic and preventive marker for the disease.