scholarly journals DPP4 rs16822665 and rs2268694 had Protective Effect on Osteonecrosis of the Femoral Head

Author(s):  
Chang Liu ◽  
Xuan Liu ◽  
Xiaolin Li

Abstract Background: It is reported that DPP4 is associated with bone metabolism, osteoporosis and other orthopedic diseases, but the correlation between DPP4 and osteonecrosis of the femoral head (ONFH) is not clear. It was the purpose of this study that was to explore the relationship between DPP4 gene and ONFH.Methods: We genotyped four single nucleotide polymorphisms (SNPs) from DPP4 gene using the Agena MassARRAY platform. The association between DPP4 variants and ONFH susceptibility was assessed using odds ratio (OR) and 95% confidence intervals (CIs) via logistic regression. Results: The results showed that the allele C of rs16822665 was related to a lower risk of ONFH (OR = 0.76, 95%CI = 0.63-0.92, p = 0.006). In the case of stratified analysis, we found that rs16822665 could reduce the incidence of ONFH risk in four genetic models (dominant, codominant, log-additive, and recessive models) in drinkers and people age ≤51 years (p < 0.05). In gender stratification analysis, both rs2268694 and rs16822665 were contributed to bring down the risk of disease, which were mainly reflected in the codominant, dominant and log-additive models in female (p < 0.05). The subgroup analysis was conducted based on smokers revealing that rs2268894 was vitally correlated with a decreased risk of ONFH in the codominant (C vs. T: OR = 0.51, 95% CI: 0.34-0.76, p = 0.001), dominant (TC-CC vs. TT: OR = 0.53, 95% CI: 0.36-0.77, p = 0.001), and log-additive (OR = 0.65, 95% CI: 0.48-0.88, p = 0.006) models, while it was not found in the non-smokers.Conclusions: This finding provide evidence that DPP4 variants play a key role in the occurrence of ONFH among the Chinese Han population.

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Yu Liu ◽  
Xin Li ◽  
Yan-Ping Huang ◽  
Zi-Yu Cui ◽  
Jia Bao ◽  
...  

Aim. Psoriasis is a chronic inflammatory disease with a complex etiology, and psoriasis vulgaris (PsV) is the most common type of psoriasis. Recent studies suggest the relationship between psoriasis and metabolic syndrome in different ethnicities. This study is aimed at evaluating the association of metabolism-related gene variants with the risk of PsV in Chinese Han population. Material and Methods. PsV patients (1030) and healthy controls (965) were enrolled in this study. Eighteen single-nucleotide polymorphisms (SNPs) previously reported to be significantly associated with metabolic syndrome were selected. SNPs were detected by next-generation sequencing. Results. Seven SNPs were significantly associated with PsV: rs805303 ( P = 0.012 , OR = 0.85 ), rs3177928 ( P = 1.37 × 10 − 15 , OR = 2.51 ), and rs2247056 ( P = 3.73 × 10 − 4 , OR = 0.67 ) located in the HLA gene region; rs1047781 ( P = 0.012 , OR = 1.18 ), rs281379 ( P = 0.014 , OR = 1.71 ), and rs492602 ( P = 0.005 , OR = 1.86 ) located in the FUT2 region; and rs2303138 ( P = 0.014 , OR = 1.18 ) located in the LNPEP region. After stratified analysis, rs805303 ( P = 0.017 , OR = 0.74 ) and rs2303138 ( P = 0.041 , OR = 1.30 ) were associated with PsVs when HLA-C ∗ 06 : 02 was positive, and rs805303 ( P = 5.62 × 10 − 5 , OR = 0.68 ), rs3177928 ( P = 0.003 , OR = 1.75 ), rs281379 ( P = 0.034 , OR = 1.96 ), and rs492602 ( P = 0.025 , OR = 2.04 ) were associated with PsVs when HLA-C ∗ 06 : 02 was negative. Conclusion. PsV and metabolic syndrome may have overlapped susceptible genes in Chinese Han population.


2019 ◽  
Author(s):  
Feimeng An ◽  
Litian Zhang ◽  
Hongyan Gao ◽  
Jiaqi Wang ◽  
Chang Liu ◽  
...  

Abstract Introduction Gene polymorhisms has an important influence on RETN gene expression level, and the increased level of resistin encoded in RETN will lead to metabolic disorder, especially lipid metabolism. Moreover, steroid-induced osteonecrosis of the femoral head (steroid-induced ONFH) is closely related to lipid metabolism level, so this study aims to explore the association of RETN Polymorphisms with susceptibility to steroid-induced ONFH in the Chinese Han Population.Methods In this case-control study, eight single nucleotide polymorphisms (SNPs) of RETN were genotyped by Agena MassARRAY system in 199 steroid-induced ONFH patients and 200 healthy controls. The association between RETN polymorphisms and steroid-induced ONFH risk was evaluated using genetic models and haplotype analyses. Odds ratio (OR) and 95% confidence intervals (CIs) were calculated by logistic regression adjusted for age.Results We found significant differences in the distribution of HDL-C, TG/HDL-C, and LDL-C/HDL-C between the patients and the control group (p < 0.05). In allele model and genotype model analysis, rs34861192, rs3219175, rs3745368 and rs1477341 could reduce the risk of steroid-induced ONFH. Further stratified analysis showed that rs3745367 was related to the clinical stage of patients, and rs1477341 was significantly correlated with an increased TG level and a decreased TC/ HDL-C level. The Linkage analysis showed that three SNPs (rs34861192, rs3219175) in RETN even significant linkage disequilibrium.Conclusions Our results provide the firstly evidence that RETN gene polymorphisms were associated with a reduced risk of steroid-induced ONFH in Chinese Han Population.


2021 ◽  
Vol 8 ◽  
Author(s):  
Peng Huang ◽  
Yu-Qing Hou ◽  
Jing-Jing Wu ◽  
Yi-Di Wang ◽  
Xiang-Yu Ye ◽  
...  

Background: Recently, several studies have reported that the host immune response can be related to the RANKL/RANK/OPG signaling pathway. However, the associations of TNFSF11, TNFRSF11A, and TNFRSF11B gene polymorphisms in the RANKL/RANK/OPG pathway with hepatitis C virus (HCV) infection outcomes remain unclear.Methods: In this case-control study, 768 persistent HCV infection and 503 spontaneous HCV clearance cases, and 1,259 control subjects were included. The Taman-MGB probe method was utilized to detect TNFSF11 rs9525641, TNFRSF11A rs8686340, and TNFRSF11B rs2073618 genotypes. The distribution of three single nucleotide polymorphisms (SNPs) genotypes was analyzed using stata14.0.Results: SNPs rs9525641, rs8086340, and rs2073618 genotype frequencies followed the Hardy-Weinberg natural population equilibrium (p = 0.637, 0.250, and 0.113, respectively). Also, rs9525641 was significantly associated with HCV chronicity risk in recessive (OR = 1.203, 95% CI: 1.018–1.420, p = 0.030) and additive models (OR = 1.545, 95% CI: 1.150–2.075, p = 0.004). The stratified analysis showed that rs9525641 variant genotypes were associated with HCV chronicity among people older than 50 years (OR =1.562, 95% CI: 1.079–2.262, p = 0.018), females (OR = 1.667, 95% CI: 1.145–2.429, p = 0.008), ALT &lt;40 U/L (OR = 1.532, 95% CI: 1.074–2.286, p = 0.018), and AST &lt; 40 U/L (OR = 1.552, 95% CI: 1.095–2.201, p = 0.014).Conclusion:TNFRSF11 rs9525641 was significantly associated with HCV chronicity in the Chinese population.


2020 ◽  
Author(s):  
Kai Rong ◽  
Zhiquan Liang ◽  
Wenyuan Xiang ◽  
Zhan Wang ◽  
Fengli Wen ◽  
...  

Abstract Background: IL-1R2, serves as a negative regulator of IL-1 signaling, is involved in the pathogenesis of osteoporosis. This study aimed to determine the correlation between IL-1R2 polymorphism and osteoporosis susceptibility among the Chinese Han population.Methods: We recruited 594 osteoporosis patients and 599 healthy controls. Six single nucleotide polymorphisms (SNPs) in IL-1R2 were selected for genotyping using Agena MassARRAY platform. Odds ratio (OR) and 95% confidence interval (CI) was calculated through logistic regression analysis with adjustment for age and sex. Linkage disequilibrium analysis was plotted by Haploview v4.2. Multifactor dimension reduction (MDR) was performed to estimate the SNP-SNP interaction of IL-1R2 variants.Results: Our result revealed that rs11674595 (OR = 1.86, p = 0.020), rs2072472 (OR = 1.26, p = 0.019) and rs4851527 (OR = 0.78, p = 0.007) were related to the risk of osteoporosis. Moreover, the contribution of IL-1R2 polymorphisms to osteoporosis risk presented age, sex and BMI difference. We found the relationship of Trs11674595Ars4851527 (OR = 0.80, p = 0.015), Crs11674595Grs4851527 (OR = 1.22, p = 0.043) and Ars3218977Grs2072472 (OR = 1.25, p = 0.022) haplotypes to osteoporosis occurrence, and a potential accumulated effect of IL-1R2 SNPs (testing accuracy = 0.5783 and CVC = 10/10) on osteoporosis susceptibility.Conclusion: IL-1R2 polymorphisms (rs11674595, rs4851527, rs2072472 and rs3218977) might contribute to osteoporosis risk among the Chinese Han population. Our finding may increase our understanding of the effects of IL-1R2 polymorphisms on the predisposition of osteoporosis.


2020 ◽  
Author(s):  
Tiantian Wang ◽  
Huiqiang Wu ◽  
Tingting Liu ◽  
Mneghu Sun ◽  
Feimeng An ◽  
...  

Abstract Background: Steroid-induced osteonecrosis of the femoral head (ONFH) is aseptic necrosis of the femoral head caused by glucocorticoid use. Once necrotic femoral head necrosis occurs, it irreversibly affects the quality of life seriously. Studies have shown that the susceptibility to steroid-induced ONFH is likely to be related to the variation of miRNA coding genes. Therefore, this study aimed was to investigate the effect of MIR3142HG on steroid-induced ONFH.Methods: Agena MassARRAY was used to genotype MIR3142HG gene rs1582417, rs2431689, rs7727155 and rs17057846 in 199 patients and 506 healthy people. A genetic model and haplotype analysis were used to evaluate the relationship between the MIR3142HG polymorphism and the risk of steroid-induced ONFH. The odds ratio (OR) and 95% confidence intervals (CIs) were obtained through logistic regression to assess the influence of gene polymorphisms on the occurrence of steroid-induced ONFH.Results: The consequences show that rs7727115(OR=0.76,p=0.036) is a protective factor, it could reduce the risk of steroid-induced ONFH, rs1582417(OR=1.28, p=0.041) could increase the risk of steroid-induced ONFH. Stratified analysis , according to each clinical index shows that MIR3142HG TC-CC genotype facilitated the risk of steroid-induced ONFH in male ( p<0.05). In addition, rs2431689 is related to HDL-C(p=0.012) and ApoA1 (p=0.010) levels, and rs17057846 (p=0.024) is related to ApoB levels.The linkage analysis indicated that three SNPs (rs2431689, rs7727115 and rs17057846) in MIR3142HG with significant chain imbalance. In addition, haplotype “GGG” of MIR3142HG was found out is harmful for steroid-induced ONFH.Conclusion: Our results firstly confirm that the genetic polymorphism of MIR3142HG is associated with steroid-induced ONFH susceptibility in Chinese Han population.


2020 ◽  
Vol 20 (5) ◽  
pp. 379-387
Author(s):  
Jianfeng Liu ◽  
Yonghui Yang ◽  
Haiyue Li ◽  
Yuanwei Liu ◽  
Yao Sun ◽  
...  

Background: Esophageal cancer (EC) is the sixth leading cause of cancer death worldwide, and the overall incidence is increasing. Objective: The aim of this study was to evaluate the association between single nucleotide polymorphisms in IL1R2 and EC risk in the Chinese population. Methods: Genotyping of six SNPs of IL1R2 was performed with the Agena MassARRAY platform from 384 EC and 499 controls. The association between polymorphisms and EC risk was assessed by performing genetics models and haplotype analyses. Results: Overall analysis results showed that the allele C of rs11674595 (odds ratio [OR] = 1.42, 95% confidence interval [CI]: 1.14-1.77, p = 0.002) and allele G of rs2072472 (allele: OR = 1.35, 95% CI: 1.08-1.69, p = 0.008) were associated with an increased EC risk. The rs11674595 and rs2072472 were found to be correlated with EC risk under the codominant, dominant, and additive models. Stratification analysis found that rs11674595 and rs2072472 were associated with increased EC risk in male and in age > 55 years old subgroup. In addition, Crs11674595Grs4851527 haplotype was significantly associated with 1.44-fold increased risk of EC (95% CI: 1.12-1.84, p = 0.004). Conclusions : Our results reveal the significant association between SNPs (rs11674595 and rs2072472) in the IL1R2 and EC risk in the Chinese Han population. The findings may provide meaningful reference for the prevention and treatment of EC.


2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Yuan Wu ◽  
Junjie Zhao ◽  
Yonglin Zhao ◽  
Tingqin Huang ◽  
Xudong Ma ◽  
...  

Abstract Background Ischemic stroke (IS) is a serious cardiovascular disease and is associated with several single nucleotide polymorphisms (SNPs). However, the role of Cytochrome P450 family 4 subfamily F member 2 (CYP4F2) gene in IS remains unknown. Our study aimed to explore whether CYP4F2 polymorphisms influenced IS risk in the Han Chinese population. Methods We selected 477 patients and 495 controls to do a case-control study, and five SNPs in CYP4F2 gene were successfully genotyped. And we evaluated the associations using the Chi-squared test, independent sample t test, and genetic models analyses. Logistic regression analysis was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs). Results In this study, rs12459936 and rs3093144 were associated with IS risk in the overall. After stratified analysis by age (> 61 years), rs3093193 and rs3093144 were related to an increased risk of IS, whereas rs12459936 was related to a decreased risk of IS. In addition, we found that three SNPs (rs3093193, rs3093144 and rs12459936) were associated with the susceptibility to IS in males. We also found five SNPs in the CYP4F2 gene had strong linkage. Conclusions Three SNPs (rs3093193, rs3093144 and rs12459936) in the CYP4F2 were associated with IS risk in a Chinese Han population. And, CYP4F2 gene may be involved in the development of IS.


2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Yanyun Wang ◽  
Bin Zhou ◽  
Yi Zhao ◽  
Xiuzhang Yu ◽  
Yi Liu ◽  
...  

Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease. IL-32, a secreted protein, has been reported to be associated with several autoimmune diseases. Our preliminary experiment showed different plasma IL-32 levels than that mentioned in a published report on the same population. In order to elucidate the correlation between IL-32 and SLE, we determined the plasma level and two single nucleotide polymorphisms (SNPs) of IL-32 in 152 patients with SLE and 310 healthy controls and analyzed the relationship based on the clinical parameters. The results showed that plasma IL-32 levels in patients with SLE were markedly lower than that in the healthy controls. In the SLE group, patients with detectable IL-32 presented low serum C3 concentrations. Further studies indicated that the rs28372698 SNP was associated with the susceptibility to SLE. Taken together, our results suggested that IL-32 could possibly be a candidate marker to monitor SLE disease stability and screening in future.


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