Predictive role of cytokines IL-10, IL-12 and TNF-α gene polymorphisms for the development of osteonecrosis of the femoral head in the Chinese Han population

2017 ◽  
Vol 63 (9) ◽  
pp. 144
Author(s):  
L. Yuan ◽  
W. Li ◽  
Z. B. Tian ◽  
Y. Li ◽  
S. Sun
Keyword(s):  
Femoral Head ◽  
Gene Polymorphisms ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Tnf Α ◽  
Predictive Role

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.

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 Association of interleukin-18 gene polymorphisms with Takayasu arteritis in a Chinese Han population

2020 ◽  
Vol 133 (19) ◽  
pp. 2315-2320
Author(s):  
Dan Wen ◽  
Xian-Liang Zhou ◽  
Xin Du ◽  
Jian-Zeng Dong ◽  
Chang-Sheng Ma
Keyword(s):  
Takayasu Arteritis ◽  
Gene Polymorphisms ◽  
Chinese Han Population ◽  
Interleukin 18 ◽  
Chinese Han ◽  
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 Association between BMP4 gene polymorphisms and eyelid traits in Chinese Han population

2017 ◽  
Vol 6 ◽  
pp. e355-e356 ◽  
Author(s):  
Qian Wang ◽  
Bo Jin ◽  
Xiaoying Luo ◽  
Tao Feng ◽  
Yu Xia ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population

scholarly journals Impact of polymorphisms in DNA repair genes XPD, hOGG1 and XRCC4 on colorectal cancer risk in a Chinese Han Population

2019 ◽  
Vol 39 (1) ◽  
Author(s):  
Dexi Jin ◽  
Min Zhang ◽  
Hongjun Hua
Keyword(s):  
Colorectal Cancer ◽  
Gene Polymorphisms ◽  
Colorectal Carcinogenesis ◽  
Chinese Han Population ◽  
Control Group ◽  
Chinese Han ◽  
Han Population ◽  
Increased Risk ◽  
Hogg1 Gene ◽  
Repair Genes

Abstract Background: This research aimed to study the associations between XPD (G751A, rs13181), hOGG1 (C326G, rs1052133) and XRCC4 (G1394T, rs6869366) gene polymorphisms and the risk of colorectal cancer (CRC) in a Chinese Han population. Method: A total of 225 Chinese Han patients with CRC were selected as the study group, and 200 healthy subjects were recruited as the control group. The polymorphisms of XPD G751A, hOGG1 C326G and XRCC4 G1394T loci were detected by the RFLP-PCR technique in the peripheral blood of all subjects. Results: Compared with individuals carrying the XPD751 GG allele, the A allele carriers (GA/AA) had a significantly increased risk of CRC (adjusted OR = 2.109, 95%CI = 1.352–3.287, P=0.003). Similarly, the G allele (CG/GG) of hOGG1 C326G locus conferred increased susceptibility to CRC (adjusted OR = 2.654, 95%CI = 1.915–3.685, P<0.001). In addition, the T allele carriers (GT/TT) of the XRCC4 G1394T locus have an increased risk of developing CRC (adjusted OR = 4.512, 95%CI = 2.785–7.402, P<0.001). The risk of CRC was significantly increased in individuals with both the XPD locus A allele and the hOGG1 locus G allele (adjusted OR = 1.543, 95%CI = 1.302–2.542, P=0.002). Furthermore, individuals with both the hOGG1 locus G allele and the XRCC4 locus T allele were predisposed to CRC development (adjusted OR = 3.854, 95%CI = 1.924–7.123, P<0.001). The risks of CRC in XPD gene A allele carriers (GA/AA) (adjusted OR = 1.570, 95%CI = 1.201–1.976, P=0.001), hOGG1 gene G allele carriers (CG/GG) (adjusted OR = 3.031, 95%CI = 2.184–4.225, P<0.001) and XRCC4 gene T allele carriers (GT/TT) (adjusted OR = 2.793, 95%CI = 2.235–3.222, P<0.001) were significantly higher in patients who smoked ≥16 packs/year. Conclusion: Our results suggest that XPD G751A, hOGG1 C326G and XRCC4 G1394T gene polymorphisms might play an important role in colorectal carcinogenesis and increase the risk of developing CRC in the Chinese Han population. The interaction between smoking and these gene polymorphisms would increase the risk of CRC.

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