title: Identification of IL-7 as a candidate disease mediator in osteoarthritis in Chinese Han population: a case-control study.
abstract: Little is known about the biochemical mediators IL-7 that correlate with the initiation and progression of OA. We performed this study to assess the role of variants of IL-7 in OA susceptibility in the Chinese Han population.
  
  
  
  We performed a retrospective, case-control study in the Chinese Han population from 2013 to 2015. Four single nucleotide polymorphisms were genotyped (using a ligase detection reaction) in 602 patients and 454 controls. Differences between groups were analysed, and association was assessed by the odds ratio (OR) and 95% CI.
  
  
  
  Among these polymorphisms, rs2583764, rs2583760 and rs6993386 showed no significant association with OA in the Chinese Han population {rs2583764 [P-allele = 0.98651, P-genotype = 0.40392, OR (95% CI): 1.00162 (0.83066, 1.20775)]; rs2583760 [P-allele = 0.384500, P-genotype = 0.58752, OR (95% CI): 0.69859 (0.30996, 1.57449)]; rs6993386 [P-allele = 0.69525, P-genotype = 0.50712, OR (95% CI): 0.96432 (0.80406, 1.15653)]}. However, the results showed that the rs2583759 polymorphism was significantly associated with OA [P-allele = 0.00 P-genotype = 3.86 × 10(-30), OR (95% CI): 0.27794 (0.22407, 0.34476)], even when the 10 000 times permutation was performed (P-allele-permutation < 0.00010, P-genotype-permutation = 0.00010). Haplotype analyses showed A-G-A-C, A-G-A-T and G-G-G-C of rs2583764-rs2583760-rs6993386-rs2583759 were risk factors for OA, both before or after the 10 000 times permutation, indicating IL-7 to be associated with OA.
  
  
  
  There was a significant association between IL-7, especially rs2583759, and OA in the Chinese Han population.
authors.affiliation: State Key Laboratory of Medical Genomics, Research Center for Experimental Medicine, Shanghai Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai.
authors.forename: Hong-Xin
authors.initials: HX
authors.lastname: Zhang
authors.affiliation: Department of Clinical Laboratory, Yantaishan Hospital, Yantai.
authors.forename: Yan-Gui
authors.initials: YG
authors.lastname: Wang
authors.affiliation: State Key Laboratory of Medical Genomics, Research Center for Experimental Medicine, Shanghai Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai.
authors.forename: Shun-Yuan
authors.initials: SY
authors.lastname: Lu
authors.affiliation: Department of General Surgery, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine.
authors.forename: Xiong-Xiong
authors.initials: XX
authors.lastname: Lu
authors.affiliation: Shanghai Institute of Orthopaedics and Traumatology, Shanghai Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China liujie007007@hotmail.com.
authors.forename: Jie
authors.initials: J
authors.lastname: Liu
mesh_terms: D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015851:Interleukin-7 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020370:Osteoarthritis, Knee / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012189:Retrospective Studies; D012307:Risk Factors
chemical_list: D015851:Interleukin-7
keywords: interleukin-7 (IL-7); osteoarthritis (OA); single nucleotide polymorphisms (SNPs)