Osteonecrosis of the femoral head (ONFH) is an orthopedic refractory disease that adversely affects quality of life. associated with an increased risk of ONFH in a dominant model (OR =1.39, 95% CI, 1.02C1.89, P=0.036), over-dominant model (OR=1.39, 95% CI, 1.02C1.89, P=0.038), and log-additive model (OR =1.36, 95% CI, 1.01C1.84, P=0.039). After adjusting for age and gender, rs11225394 was associated with ONFH in a dominant (OR =1.44, 95% CI, 1.05C1.96, P=0.023), over-dominant (OR =1.44, 95% CI, 1.05C1.98, P=0.022), and log-additive model (OR =1.40, 95% CI, 1.04C1.90, P=0.027). These results provide the first evidence that SNP at the rs11225394 locus is usually associated with the increased risk of ONFH in Chinese Han population. have been investigated in many diseases. In this case-control study, we genotyped five SNPs in (OR=1.34; 95% CI, 1.003-1.786, P=0.047). The other SNPs did not correlate with the risk of ONFH. Table 1 Primers Used for this Study Table 2 Characteristics of cases and controls in this study Table 3 Allele frequencies in cases and controls and odds ratio estimates for ONFH Next, we assumed that this minor allele of each tSNP was a risk factor, and we assessed the association between these SNPs and ONFH risks using five genetic models (codominant, dominant, recessive, over-dominant, and log-additive) by unconditional logistic-regression analysis. Our analyses in Table ?Table44 showed that this genotype T/C of rs11225394 in the gene was associated with an increased risk of ONFH in the dominant model before (OR =1.39, 95% CI, 1.02C1.89, P=0.036) and after (adjusted OR =1.44, 95% CI, 1.05C1.96, P=0.023) adjustment. Similarly, in the over-dominant model, rs11225394 also exhibited a significant association with the ONFH risk before (OR=1.39, 95% CI, 1.02C1.89, P=0.038) and after (OR =1.44, 95% CI, 1.05C1.98, P=0.022) adjustment. In addition, in the log-additive model, the T/C genotype of rs11225394 also conferred an increased risk before (OR =1.36, 95% CI, 1.01C1.84, P=0.039) and after (OR =1.40, 95% CI, 1.04C1.90, P=0.027) adjustment for age and sex. Table 4 Genotypic model analysis of relationship between SNPs and ONFH risk DISCUSSION In this study, five SNPs in the gene were examined in 1092 subjects to determine whether they were associated with the CGS 21680 HCl risk of ONFH in the Chinese Han populace. The most valuable finding is that the rs11225394 polymorphism in showed a significant association with an increased risk of ONFH occurrence. We are the first to demonstrate an association between this locus and ONFH susceptibility. Rs11225394 is located in the intron (boundary) region of the gene. Morgan is usually negatively regulated by microRNA-539 through a special binding site in the 3-UTR, which may inhibit osteosarcoma cell proliferation and migration [35]. In carious dentin of primary teeth, a strong expression of MMP-8 was also observed in both active caries lesion and sealing infected caries dentin [36]. In arthritis, lack of MMP-8 is usually accompanied by exacerbated joint inflammation and bone erosion, indicating that MMP-8 might have a protective role in arthritis [37]. However, there is a limited evidence for a direct function of MMP-8 in orthopedic diseases. Currently, the relationship between rs11225394 polymorphism and gene expression/function in ONFH patients is not clear. Further studies are required to characterize the function of and elucidate the mechanisms underlying the association between and ONFH susceptibility. Our study provides the first evidence of the association between rs11225394 in and the risk of ONFH. Although this study had a sufficient statistical power, there were some intrinsic limitations. First, the participants ethnicity was limited to the Han Chinese population. Thus, further analysis is needed to determine whether current conclusions are applicable also to other ethnicities. Second, the participant cases were enrolled in the same hospital, so selection bias cannot be excluded and the subjects might not be representative of the general populace. However, this bias was not meaningful because the samples did not differ in geographical distributions or genotype frequencies. Finally, even though we discovered the association between rs11225394 and ONFH susceptibility, we did not elucidate causal mechanisms. Together, our results provide the first evidence regarding the relationship between and the risk of ONFH. We believe that our results will encourage further studies to characterize the function of and elucidate the underlying mechanisms of polymorphisms conferring susceptibility to ONFH. MATERIALS AND METHODS Study participants and data collection In this case-control study, we recruited participants among Chinese population including patients with confirmed ONFH and with the mean age of 42.6112.951, as well as healthy controls with the mean age of 47.439.739. These cases were CGS 21680 HCl recruited from the Zhengzhou Traditional Chinese Medicine (TCM) Traumatology Hospital between January 2013 and May 2015. Control subjects were genetically unrelated Chinese residents who were enrolled from the Zhengzhou INFIRMARY in Henan Province. All individuals were Han Chinese language. A typical epidemiologic questionnaire was utilized to get personal data. Informed CGS 21680 HCl consent was from Rabbit polyclonal to AFF2. all individuals of.