Research Papers:
TIMP-2 SNPs rs7342880 and rs4789936 are linked to risk of knee osteoarthritis in the Chinese Han Population
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Abstract
Pengcheng Xu1,*, Wen Guo1,*, Tianbo Jin2,3, Jihong Wang4, Dongsheng Fan4, Zengtao Hao4, Shangfei Jing4, ChaoQian Han4, Jieli Du1, Dong Jiang1, Shuzheng Wen4, Jianzhong Wang5
1Inner Mongolia Medical University, Hohhot 010010, Inner Mongolia, China
2Key Laboratory of Resource Biology and Biotechnology in Western China (Northwest University), Ministry of Education, School of Life Sciences, Northwest University, Xi’an, Shaanxi 710069, China
3Xi’an Tiangen Precision Medical Institute, Xi’an, Shaanxi, 710075, China
4Department of Hand and Foot Surgery, Second Affiliated Hospital, Inner Mongolia Medical University, Hohhot 010030, Inner Mongolia Autonomous Region, China
5Department of Trauma, Second Affiliated Hospital, Inner Mongolia Medical University, Hohhot 010030, Inner Mongolia Autonomous Region, China
*These authors have contributed equally to this work
Correspondence to:
Shuzheng Wen, email: [email protected]
Jianzhong Wang, email: [email protected]
Keywords: knee osteoarthritis, TIMP-2, single nucleotide polymorphism, gene
Received: July 11, 2016 Accepted: November 09, 2016 Published: November 25, 2016
ABSTRACT
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.
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