scholarly journals The IL-6 rs12700386 polymorphism is associated with an increased risk of developing osteoarthritis in the knee in the Chinese Han population: a case-control study

2020 ◽  
Author(s):  
Hui Yang ◽  
Xindie Zhou ◽  
Dongmei Xu ◽  
Gang Chen

Abstract Background: This case-control study aims to examine the association between the Interleukin-6 (IL-6) rs12700386 polymorphism and the increased risk of developing osteoarthritis (OA) in the knee in the Chinese Han population.Methods: We extracted DNA from 763 subjects (352 OA patients and 411 healthy controls). The relative expression levels of IL-6 in blood samples of patients with knee OA was determined by quantitative reverse transcription PCR (qRT-PCR) and polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was used for genotyping the IL-6 gene polymorphism.Results: We found that the IL-6 polymorphism rs12700386 enhanced patient susceptibility to developing knee OA. Based on a subgroup analysis, the risk of developing knee OA was elevated in smokers, drinkers, and subjects ≥ 55 years old or with BMI ≥ 25 kg/m2. The combination of smoking, drinking, and having the rs12700386 genotype led to an increase in the risk of developing knee OA, indicating that an underlying interaction between gene and environment exists. The rs12700386 genotype was found to be correlated with an increase in IL-6 expression. We also found that IL-6 levels were significantly higher in the CC genotype compared to the GG genotype carriers in OA patients.Conclusion: These data suggest that the rs12700386 polymorphism in the IL-6 gene leads to an increase in the risk of knee OA in Chinese Han individuals.

2020 ◽  
Author(s):  
Hui Yang ◽  
Xindie Zhou ◽  
Dongmei Xu ◽  
Gang Chen

Abstract Background: This case-control study aims to examine the association between the Interleukin-6 (IL-6) rs12700386 polymorphism and the increased risk of developing osteoarthritis (OA) in the knee in the Chinese Han population.Methods: We extracted DNA from 763 subjects (352 OA patients and 411 healthy controls). The relative expression levels of IL-6 in blood samples of patients with knee OA was determined by quantitative reverse transcription PCR (qRT-PCR) and polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was used for genotyping the IL-6 gene polymorphism.Results: We found that the IL-6 polymorphism rs12700386 enhanced patient susceptibility to developing knee OA. Based on a subgroup analysis, the risk of developing knee OA was elevated in smokers, drinkers, and subjects ≥ 55 years old or with BMI ≥ 25 kg/m2. The combination of smoking, drinking, and having the rs12700386 genotype led to an increase in the risk of developing knee OA, indicating that an underlying interaction between gene and environment exists. The rs12700386 genotype was found to be correlated with an increase in IL-6 expression. We also found that IL-6 levels were significantly higher in the CC genotype compared to the GG genotype carriers in OA patients.Conclusion: These data suggest that the rs12700386 polymorphism in the IL-6 gene leads to an increase in the risk of knee OA in Chinese Han individuals.


2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Hui Yang ◽  
Xindie Zhou ◽  
Dongmei Xu ◽  
Gang Chen

Abstract Background This case-control study aims to examine the association between the Interleukin-6 (IL-6) rs12700386 polymorphism and the increased risk of developing osteoarthritis (OA) in the knee in the Chinese Han population. Methods We extracted DNA from 763 subjects (352 OA patients and 411 healthy controls). The relative expression levels of IL-6 in blood samples of patients with knee OA was determined by quantitative reverse transcription PCR (qRT-PCR) and polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was used for genotyping the IL-6 gene polymorphism. Results We found that the IL-6 polymorphism rs12700386 enhanced patient susceptibility to developing knee OA. Based on a subgroup analysis, the risk of developing knee OA was elevated in smokers, drinkers, and subjects ≥55 years old or with BMI ≥ 25 kg/m2. The combination of smoking, drinking, and having the rs12700386 genotype led to an increase in the risk of developing knee OA, indicating that an underlying interaction between gene and environment exists. The rs12700386 genotype was found to be correlated with an increase in IL-6 expression. We also found that IL-6 levels were significantly higher in the CC genotype compared to the GG genotype carriers in OA patients. Conclusion These data suggest that the rs12700386 polymorphism in the IL-6 gene leads to an increase in the risk of knee OA in Chinese Han individuals.


2020 ◽  
Author(s):  
Hui Yang ◽  
Xindie Zhou ◽  
Dongmei Xu ◽  
Gang Chen

Abstract Background: This case-control study aims to examine the association between the Interleukin-6 (IL-6) rs12700386 polymorphism and the increased risk of developing osteoarthritis (OA) in the knee in the Chinese Han population.Methods: We extracted DNA from 763 subjects (352 OA patients and 411 healthy controls). The relative expression levels of IL-6 in blood samples of patients with knee OA was determined by quantitative reverse transcription PCR (qRT-PCR) and polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was used for genotyping the IL-6 gene polymorphism. Results: We found that the IL-6 polymorphism rs12700386 enhanced patient susceptibility to developing knee OA. Based on a subgroup analysis, the risk of developing knee OA was elevated in smokers, drinkers, and subjects ≥ 55 years old or with BMI ≥ 25 kg/m2. The combination of smoking, drinking, and having the rs12700386 genotype led to an increase in the risk of developing knee OA, indicating that an underlying interaction between gene and environment exists. The rs12700386 genotype was found to be correlated with an increase in IL-6 expression. We also found that IL-6 levels were significantly higher in the CC genotype compared to the GG genotype carriers in OA patients. Conclusion: These data suggest that the rs12700386 polymorphism in the IL-6 gene leads to an increase in the risk of knee OA in Chinese Han individuals.


2020 ◽  
Author(s):  
Hui Yang ◽  
Xindie Zhou ◽  
Dongmei Xu ◽  
Gang Chen

Abstract Background: There is an association between Interleukin-6 (IL-6) polymorphism and knee osteoarthritis (OA) risk. The case-control study aims at exploring how IL-6 rs12700386 polymorphism affects the knee OA risk in Chinese Han individuals.Methods: We extracted the DNA from 763 participants, thereinto, 352 were OA patients and 411 were healthy controls. The polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assisted in genotyping the IL-6 gene polymorphism. The relative expression exhibited by IL-6 in blood samples of knee OA patients was determined via a quantitative reverse transcription PCR (qRT-PCR). Results: We found that IL-6 rs12700386 enhanced the knee OA susceptibility. Based on a subgroup analysis, the loci magnified the knee OA risk in smokers, drinkers, and subjects ≥ 55 years old or with BMI ≥ 25 kg/m2. The combination of smoking and drinking and rs12700386 genotype led to an increase in the knee OA risk, indicating an underlying interaction between gene and environment. Additionally, the rs12700386 was found to be related to increased IL-6 gene levels. Conclusion: These data indicate that rs12700386 polymorphism of IL-6 gene led to an increase in the knee OA risk specific to Chinese Han individuals.


2021 ◽  
Vol 12 ◽  
Author(s):  
Weiwei Gui ◽  
Julong Liang ◽  
Xihua Lin ◽  
Nanjing Shi ◽  
Yiyi Zhu ◽  
...  

AimsTo explore associations between polymorphisms of IGF2-related genes including H19, IGF2, IGF2BP2 and IGF2R and Metabolic syndrome (MetS) susceptibility in the Chinese Han population.Methods66 subjects with MetS and 257 control subjects were collected for inclusion in a case-control study. PCR-RFLP was used to investigate polymorphisms in the H19, IGF2, IGF2BP2 and IGF2R genes. Elisa was used to detect the serum IGF2 concentrations.ResultsFemales carrying the GG and AG genotypes of rs680 (IGF2) exhibited a lower risk of MetS, compared with those harboring AA (adjusted OR = 0.388, p = 0.027), while GG and AG genotypes were associated with lower fasting glucose and HbA1c. In males, the Waist-to-Hip Ratio (WHR) and the level of TG were significantly higher in GG and AG genotypes than in the AA genotype of rs680 in IGF2. Levels of HDL-c were lower in men with GG and AG genotypes compared with those carrying the AA genotype. Serum IGF2 concentrations did not change among different genotypes. Finally, multifactor dimensionality reduction (MDR) analysis identified interactions between four polymorphisms: rs3741279 (H19), rs680 (IGF2), rs1470579 (IGF2BP2) and rs629849 (IGF2R).ConclusionsOur study suggests that IGF2-related genes including H19, IGF2, IGF2BP2 and IGF2R genes may play pivotal roles in the development of MetS.


2020 ◽  
Author(s):  
Cuijuan Zheng ◽  
Jiayu Wang ◽  
Shouxiang Xie

Abstract Background: Matrix metalloproteinase-9 (MMP-9) plays an important role in the development of sepsis. In order to explore the relationship between MMP-9 -1562 C/T polymorphism and sepsis risk in Chinese Han population, we conducted a case-control study with a sample size of 312 sepsis patients and 413 controls.Methods: The ABI PRISM SNaPshot method (Applied Biosystems, Carlsbad, CA, USA) was performed to genotype the MMP-9 -1562 C/T polymorphism.Results: Our data indicated that MMP-9 -1562 C/T polymorphism was associated with an increased risk of sepsis (CT vs. CC: P = 0.032, OR=1.45, 95%CI =1.03-2.05; TT + CT vs. CC: P = 0.019, OR =1.49, 95%CI = 1.07-2.07). Stratified analyses demonstrated that this increased risk was more evident in smokers, drinkers, females, and overweight individuals (BMI ≥ 25). In addition, cross-over analyses suggested that the combination of smoking and CT genotype of MMP-9 -1562 C/T polymorphism contributed to a higher risk for sepsis.Conclusion: In conclusion, MMP-9 -1562 C/T polymorphism is associated with an increased risk of sepsis in Chinese Han population. MMP-9 -1562 C/T polymorphism may serve as a diagnostic marker for sepsis patients.


2019 ◽  
Vol 39 (1) ◽  
Author(s):  
Wenpeng Hui ◽  
Zhong Cao ◽  
Xiao Wang ◽  
Junfeng Zhu

Abstract Several studies have explored the association between matrix Gla protein (MGP) gene polymorphism and knee osteoarthritis (OA) risk; however, they obtained conflicting findings. The present study aims to explore the association of MGP gene polymorphism and OA risk in a Chinese Han population. A total of 256 patients with radiographic knee OA and 327 control subjects were recruited in this case–control study. The genotypes of MGP gene rs1800802 polymorphism was determined by standard PCR and restriction fragment length polymorphism (PCR-RLFP). In this case–control study, we observed that MGP gene rs1800802 polymorphism increased the risk of knee OA. Subgroup analyses also found that rs1800802 polymorphism was related to the elevated risk for knee OA among the female, smoker, drinker, and body mass index (BMI) ≥25 kg/m2 groups. In conclusion, this study shows that MGP gene rs1800802 polymorphism is associated with increased risk for knee OA in Chinese Han population and the rs1800802 polymorphism may be a diagnostic marker of radiographic knee OA.


Digestion ◽  
2021 ◽  
pp. 1-13
Author(s):  
Xingyun Zhan ◽  
Fenghua Bai ◽  
Sifeng Lin ◽  
Tao Feng ◽  
Xiaosi Tang ◽  
...  

<b><i>Background:</i></b> Colorectal cancer (CRC) is one of the common malignant tumors, with high mortality and poor prognosis. Our study aimed to determine the association between the long noncoding RNA (LncRNA) <i>C5orf66</i> polymorphism and CRC risk in southern Chinese Han population. <b><i>Method:</i></b> Using the experimental design of “case-control” study (512 cases and 513 controls), we selected 4 candidate single-nucleotide polymorphisms (SNPs) of <i>C5orf66</i>. All candidate SNPs were genotyped by Agena MassARRAY. Logistic regression was used to analyze the association between SNPs and CRC risk. Then, we used false-positive report probability analysis to detect whether the significant result is just a chance or noteworthy observation. Multi-factor dimensionality reduction was used to analyze the interaction of “SNP-SNP” in CRC risk. <b><i>Results:</i></b> Our results showed that <i>C5orf66</i> SNPs rs4976270 (odds ratio [OR] = 1.69, <i>p</i> = 0.021) and rs639933 (OR = 1.67, <i>p</i> = 0.024) were, respectively, associated with increasing CRC risk in the southern Chinese Han population. Stratified analysis showed that rs4976270 and rs639933 were significantly associated with an increased risk of CRC in subgroups (&#x3e;60 years, body mass index ≤24 and drinking) under multiple genetic models. In addition, rs254563 and rs647161 also had potential association with CRC risk in subgroups (BMI ≤24 and drinking). Finally, haplotype analysis results showed that haplotype “TA” was significantly associated with increased CRC risk (OR = 1.21, confidence interval = 1.47–2.02, <i>p</i> = 0.043). <b><i>Conclusion:</i></b> Our study provides a new idea for the risk assessment of CRC. LncRNA C5orf66 SNPs have a certain association with CRC risk in the southern Chinese Han population.


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