scholarly journals An intron SNP rs2069837 in IL-6 is associated with osteonecrosis of the femoral head development

2022 ◽  
Vol 15 (1) ◽  
Author(s):  
Ruisong Wang ◽  
Rui Li ◽  
Ruiyu Liu
Keyword(s):  
Femoral Head ◽  
Crucial Role ◽  
Odds Ratio ◽  
Chinese Han Population ◽  
Online Database ◽  
Chinese Han ◽  
Han Population ◽  
Head Development ◽  
Stratified Analysis

Abstract Background Genetic polymorphisms play a crucial role in the development of osteonecrosis of the femoral head (ONFH). This study mainly explored the association of IL-6 variants and ONFH susceptibility among the Chinese Han population. Methods Two variants (rs2069837, and rs13306435) in the IL-6 gene were identified and genotyped from 566 patients with ONFH and 566 healthy controls. The associations between IL-6 polymorphisms and ONFH susceptibility were assessed using odds ratio (OR) and 95% confidence interval (95% CI) via logistic regression. The potential function of these two variants was predicted by the HaploReg online database. Results The results of the overall analysis revealed that IL-6 rs2069837 was correlated with decreased risk of ONFH among the Chinese Han population (p < 0.05). In stratified analysis, rs2069837 also reduced the susceptibility to ONFH in older people (> 51 years), males, nonsmokers, and nondrinkers (p < 0.05). However, no associations between rs13306435 and ONFH susceptibility were observed (p > 0.05). Conclusions To sum up, we suggested that rs2069837 G>A polymorphism in the IL-6 gene was significantly associated with a decreased risk of ONFH among the Chinese Hans. These findings underscored the crucial role of IL-6 rs2069837 in the occurrence of ONFH.

scholarly journals Genetic variants in MIR17HG affect the susceptibility and prognosis of glioma in a Chinese Han population

2020 ◽  
Author(s):  
Jigao Feng ◽  
Yibin Ouyang ◽  
Dedong Xu ◽  
Qinglong He ◽  
Dayuan Liu ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Odds Ratio ◽  
Progression Free Survival ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Free Survival ◽  
Han Population ◽  
Kaplan Meier ◽  
Hazard Ratios

Abstract Background: lncRNA MIR17HG was upregulated in glioma, and involved glioma proliferation, migration, invasion and promoted apoptosis. However, the role of MIR17HG polymorphisms on the occurrence and prognosis of glioma is not obvious. Methods: In the study, 592 glioma patients and 502 control subjects conducted. Agena MassARRAY platform was used to detect the genotype of MIR17HG polymorphisms. Logistic regression analysis was used to evaluate the relation of MIR17HG SNPs to glioma risk by odds ratio (OR) and 95% confidence intervals (CIs). Kaplan–Meier curves, Cox hazards models were performed for assessing the role of these SNPs in glioma prognosis by hazard ratios (HR) and 95% CIs. Results: We found that rs7318578 (OR = 2.25, p = 3.18x10-5) was significantly associated with glioma susceptibility. Rs17735387 (OR = 1.53, p = 9.05x10-3) and rs7336610 (OR = 1.35, p = 0.016) had a higher glioma susceptibility in the subgroup with age < 40 years. More importantly, rs17735387 (HR = 0.82, log-rank p = 0.026) improved glioma prognosis. GA genotype of rs17735387 had a better overall survival (HR = 0.75, log-rank p = 0.013) and progression free survival (HR = 0.73, log-rank p = 0.032) in patients with Ⅰ-Ⅱ glioma. Conclusion: Our study firstly reported that MIR17HG polymorphisms, especially rs7318578, might be risk factors for glioma susceptibility and rs17735387 improved the prognosis of glioma among Chinese Han population, which might help to enhance the understanding of MIR17HG gene in gliomagenesis.

scholarly journals Distinct role of the CYP4F2 polymorphisms in determining the risk of HAPE among Chinese Han population

2020 ◽  
Author(s):  
Yanli Zhao ◽  
Haiyuan Wang ◽  
Guifen Gan ◽  
Rong Wang ◽  
Qifu Long ◽  
...  
Keyword(s):  
Northwest China ◽  
Leukotriene B4 ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Gender Stratification ◽  
Han Population ◽  
Potential Association ◽  
Stratified Analysis ◽  
First Time

Abstract Background: CYP4F2 is potentially associated with High altitude pulmonary edema (HAPE) risk by regulating inflammatory mediator leukotriene B4 and arachidonic acid. However, the role of CYP4F2 in HAPE susceptibility remains unknown. For the first time, we conducted a case-control study to assess the potential association of CYP4F2 gene variants (rs3093193, rs12459936, rs3093144 and rs3093110) with HAPE susceptibility in Chinese Han population.Methods: The study included 238 BC patients and 230 healthy controls from northwest China. The polymorphisms selected in CYP4F2 gene were genotyped by Agena MassARRAY system. Odds ratios (ORs), 95% confidence intervals (95% CIs), and P values were used to evaluate the relationship between the two.Results: In the allele model and genotype model of the overall analysis, rs3093193 was shown to reduce the risk of HAPE (P ＜ 0.05), while rs12459936 increased susceptibility to HAPE (P ＜ 0.05). Age stratified analysis revealed that rs3093193 and rs12459936 were correlated with HAPE risk at age > 32 years (P ＜ 0.05), and rs3093193 and rs3093110 were correlated with the HAPE risk at age ≤ 32 years (P ＜ 0.05). Gender stratification analysis found that rs3093193, rs12459936 and rs3093110 were all related to HAPE risk in males (P ＜ 0.05). Haplotype analysis illuminated that GCCG and CTC could increase HAPE risk at age ≤ 32 years and males, respectively (P ＜ 0.05).Conclusions: Our research confirmed that CYP4F2 genes polymorphisms were implicated in HAPE susceptibility in Chinese Han population.

scholarly journals Association of a polymorphism in PON-1 gene with steroid-induced osteonecrosis of femoral head in Chinese Han population

2013 ◽  
Vol 8 (1) ◽  
Author(s):  
Zhiyao Wang ◽  
Yanqiong Zhang ◽  
Xiangying Kong ◽  
Shangzhu Li ◽  
Yimin Hu ◽  
...  
Keyword(s):  
Femoral Head ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Osteonecrosis Of Femoral Head ◽  
Han Population

scholarly journals Genetic susceptibility of five tagSNPs in the endothelin-1 (EDN1) gene to coronary artery disease in a Chinese Han population

2018 ◽  
Vol 38 (5) ◽  
Author(s):  
Li-li Liang ◽  
Lin Chen ◽  
Meng-yuan Zhou ◽  
Meng-yun Cai ◽  
Jie Cheng ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Endothelin 1 ◽  
Increased Risk ◽  
Artery Disease ◽  
Cad Risk

Endothelin-1 (ET-1) plays important roles in endothelial dysfunction, vascular physiology, inflammation, and atherosclerosis. Nonetheless, the role of ET-1 (EDN1) gene variants on coronary artery disease (CAD) risk remains poorly understood. The aim of the present study was to evaluate the role of EDN1 gene polymorphisms on individual susceptibility to CAD. We genotyped five tagSNPs (single-nucleotide polymorphisms) (rs6458155, rs4145451, rs9369217, rs3087459, and rs2070699) within EDN1 gene in 525 CAD patients and 675 control subjects. In a multivariate logistic regression analysis, we detected an association of rs6458155 in EDN1 gene with the CAD risk; compared with the TT homozygotes, the CT heterozygotes (odds ratio (OR) = 1.53, 95% confidence interval (CI) = 1.02–2.29, P=0.040) and the CC homozygotes (OR = 1.55, 95% CI = 1.01–2.36, P=0.043) were statistically significantly associated with the increased risk for CAD. A similar trend of the association was found in dominant model (OR = 1.53, 95% CI = 1.05–2.25, P=0.029). Consistently, the haplotype rs6458155C-rs4145451C containing rs6458155 C allele exhibited the increased CAD risk (OR = 1.22, 95% CI = 1.03–1.43, and P=0.018). In addition, CT genotype of rs6458155 conferred the increased plasma ET-1 levels compared with TT genotype (P<0.05). No association of the other four tagSNPs in EDN1 gene with CAD risk was observed. In conclusion, our study provides the first evidence that EDN1 tagSNP rs6458155 is associated with CAD risk in the Chinese Han population, which is probably due to the influence of the circulating ET-1 levels.

scholarly journals Association between PNPLA2 Gene Polymorphisms and the Risk of Diabetic Kidney Disease in a Chinese Han Population with Type 2 Diabetes

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Hailing Zhao ◽  
Haojun Zhang ◽  
Yan Wang ◽  
Tingting Zhao ◽  
Meihua Yan ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Odds Ratio ◽  
Diabetic Kidney Disease ◽  
Adjusted Odds Ratio ◽  
Additive Model ◽  
Chinese Han Population ◽  
Dominant Model ◽  
Chinese Han ◽  
Han Population

Diabetic kidney disease (DKD) is one of the most common complications of diabetes and the leading cause of end-stage renal disease. Here, we investigated the association of PNPLA2 gene variations with DKD susceptibility in a Chinese Han population. A total of 818 participants with type 2 diabetes were recruited in the case-control study, including 379 patients diagnosed with DKD. We observed that 2 tagSNPs, PNPLA2 rs28633403 (A>G) and rs1138714 (A>G), were associated with DKD (rs28633403: genotype, P=0.017; allele, P=0.015; rs1138714: genotype, P=0.029; allele, P=0.018). PNPLA2 rs1138693 (T>C), a missense SNP, showed no association with DKD (genotype, P=0.966; allele, P=0.845). Genetic model analysis revealed that minor allele G of PNPLA2 rs28633403 was a protective factor of DKD in a dominant model adjusted by confounders (AG+GG vs. AA: adjusted odds ratio (aOR), 0.619; 95% CI 0.447-0.857; P=0.004) and in an additive model (AG vs. AA: aOR, 0.633; 95% CI 0.447-0.895; P=0.010; GG vs. AA: aOR, 0.588; 95% CI 0.385-0.897; P=0.014). Minor allele G of PNPLA2 rs1138714 was associated with a higher risk of DKD in a dominant model adjusted by confounders (AG+GG vs. AA: adjusted odds ratio (aOR), 1.531; 95% CI 1.134-2.067; P=0.005) and in an additive model (AG vs. AA: aOR, 1.529; 95% CI 1.118-2.091; P=0.008). The combined effect of PNPLA2 rs28633403 AA+rs1138714 AG or GG genotype showed an association with DKD, adjusted by confounders (aOR, 2.194; 95% CI 1.378-3.492; P=0.001), which was considered statistically significant with a markedly increased risk of DKD after a Holm-Bonferroni correction for multiple tests (P<0.00125). Our results suggest that PNPLA2 rs28633403 and rs1138714 are significantly associated with the risk of DKD in a Chinese Han population with type 2 diabetes.

Osteoprotegerin polymorphisms are associated with alcohol-induced osteonecrosis of femoral head in Chinese Han population from Henan province

2016 ◽  
Vol 95 (4) ◽  
pp. 983-989 ◽  
Author(s):  
YIZHOU LI ◽  
YONGCHANG GUO ◽  
QUANJIAN WANG ◽  
YONGRI OUYANG ◽  
YUJU CAO ◽  
...  
Keyword(s):  
Femoral Head ◽  
Henan Province ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Osteonecrosis Of Femoral Head ◽  
Han Population

scholarly journals Role of t-PA and PAI-1 variants in temporal lobe epilepsy in Chinese Han population

BMC Neurology ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Wenxiu Han ◽  
Pei Jiang ◽  
Yujin Guo ◽  
Pengfei Xu ◽  
Ruili Dang ◽  
...  
Keyword(s):  
Temporal Lobe Epilepsy ◽  
Temporal Lobe ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Pai 1

scholarly journals Combination Analysis of NR3C1, MTHFR and IGFBP3 Gene Polymorphisms and DNA Methylation With Steroid-induced Osteonecrosis of the Femoral Head Risk in Chinese Han Population 

2020 ◽  
Author(s):  
Ronglan Huang ◽  
Qinghao Zhan ◽  
Wenbin Hu ◽  
Renmin Yang ◽  
Nan Cheng ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Femoral Head ◽  
Methylation Level ◽  
Gene Polymorphisms ◽  
Methylation Status ◽  
Chinese Han Population ◽  
Control Group ◽  
Chinese Han ◽  
Han Population ◽  
Wide Range

Abstract Background: Although the precise etiology of osteonecrosis of the femoral head (ONFH) has yet to be fully elucidated, it is known that nuclear receptor subfamily3, group C, member 1 (NR3C1), 5, 10-methylenetetrahydrofolate reductase (MTHFR) and insulin-like growth factor-binding protein 3 (IGFBP3) are related to the pathophysiology of steroid-induced osteonecrosis of the femoral head (SONFH). The expression of NR3C1, MTHFR and IGFBP3 are regulated by epigenetics and genetic profiles. Objective: The primary objective of this study was to investigated the association between NR3C1, MTHFR and IGFBP3 gene polymorphisms and DNA methylation status and SONFH.Methods: This case-control study included 79 patients with SONFH and 114 patients who took steroids but did not develop SONFH. We evaluated 5 single-nucleotide polymorphisms (SNPs) out of 3 genes in Chinese Han population. These SNPs were genotyped by improved multiplex ligation detection reaction (iMLDR). Methyltarget was used to test the methylation level of positive sites, the interaction between SNPs and DNA methylation level was analyzed using eQTLD technique.Results: We identified rs3110697 in the IGFBP3 gene that was potentially associated with a reduced risk of SONFH in the genotype (P=0.008; odds ratio [OR]: 0.741; 95% confidence intervals [CI]: 0.456–1.205) and in the recessive model (P=0.003; OR: NA; 95% CI: NA–NA). Furthermore, CpG sites with significant differences in methylation levels were screened as follows: IGFBP3_2-143, MTHFR_1-36, MTHFR_1-77, MTHFR_1-139, MTHFR_2-42, NR3C1_2-163, NR3C1_4-47, and the differences were statistically significant compared with the control group (p<0.05). A total of 10 pairs of linear regression tests of SNP and methylation sites were statistically significant (p<0.05).Conclusions: SONFH is a polygenic disorder in which a wide range of interactions between SNPs and DNA methylation levels may dominate the course of the disease.

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