title: TIMP-2 SNPs rs7342880 and rs4789936 are linked to risk of knee osteoarthritis in the Chinese Han Population.
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.
authors.affiliation: Inner Mongolia Medical University, Hohhot 010010, Inner Mongolia, China.
authors.forename: Pengcheng
authors.initials: P
authors.lastname: Xu
authors.affiliation: Inner Mongolia Medical University, Hohhot 010010, Inner Mongolia, China.
authors.forename: Wen
authors.initials: W
authors.lastname: Guo
authors.affiliation: Key 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.|Xi'an Tiangen Precision Medical Institute, Xi'an, Shaanxi, 710075, China.
authors.forename: Tianbo
authors.initials: T
authors.lastname: Jin
authors.affiliation: Department of Hand and Foot Surgery, Second Affiliated Hospital, Inner Mongolia Medical University, Hohhot 010030, Inner Mongolia Autonomous Region, China.
authors.forename: Jihong
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Hand and Foot Surgery, Second Affiliated Hospital, Inner Mongolia Medical University, Hohhot 010030, Inner Mongolia Autonomous Region, China.
authors.forename: Dongsheng
authors.initials: D
authors.lastname: Fan
authors.affiliation: Department of Hand and Foot Surgery, Second Affiliated Hospital, Inner Mongolia Medical University, Hohhot 010030, Inner Mongolia Autonomous Region, China.
authors.forename: Zengtao
authors.initials: Z
authors.lastname: Hao
authors.affiliation: Department of Hand and Foot Surgery, Second Affiliated Hospital, Inner Mongolia Medical University, Hohhot 010030, Inner Mongolia Autonomous Region, China.
authors.forename: Shangfei
authors.initials: S
authors.lastname: Jing
authors.affiliation: Department of Hand and Foot Surgery, Second Affiliated Hospital, Inner Mongolia Medical University, Hohhot 010030, Inner Mongolia Autonomous Region, China.
authors.forename: ChaoQian
authors.initials: C
authors.lastname: Han
authors.affiliation: Inner Mongolia Medical University, Hohhot 010010, Inner Mongolia, China.
authors.forename: Jieli
authors.initials: J
authors.lastname: Du
authors.affiliation: Inner Mongolia Medical University, Hohhot 010010, Inner Mongolia, China.
authors.forename: Dong
authors.initials: D
authors.lastname: Jiang
authors.affiliation: Department of Hand and Foot Surgery, Second Affiliated Hospital, Inner Mongolia Medical University, Hohhot 010030, Inner Mongolia Autonomous Region, China.
authors.forename: Shuzheng
authors.initials: S
authors.lastname: Wen
authors.affiliation: Department of Trauma, Second Affiliated Hospital, Inner Mongolia Medical University, Hohhot 010030, Inner Mongolia Autonomous Region, China.
authors.forename: Jianzhong
authors.initials: J
authors.lastname: Wang
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002681:China; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020370:Osteoarthritis, Knee / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D019716:Tissue Inhibitor of Metalloproteinase-2 / Q000235:genetics*
chemical_list: D019716:Tissue Inhibitor of Metalloproteinase-2
keywords: TIMP-2; gene; knee osteoarthritis; single nucleotide polymorphism