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

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...

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Bibliographic Details
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
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Summary: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.
ISSN:1949-2553
1949-2553
DOI:10.18632/oncotarget.13590