scholarly journals ZSCAN25 and CYP2E1 Polymorphisms is Risk Factors for Ischemic Stroke in a Chinese Han Population: A Case Control Study

2020 ◽  
Author(s):  
Haozheng Yuan ◽  
Pei Fan ◽  
Li Yao ◽  
Yuying Lv ◽  
Haidong Wei ◽  
...  

Abstract Background: We aimed to explore the relationship between ZSCAN25 and CYP2E1 polymorphisms and Ischemic stroke (IS) susceptibility among a Chinese Han population.Methods: We enrolled 477 patients with IS and 480 age- and sex- matched health controls. Genotyping of the ZSCAN25 rs10242455, CYP2E1 rs2070672 and rs2515641 were performed by Agena MassARRAY platform. Odds ratio (OR) and 95% confidence interval (CI) were calculated by logistic regression analysis.Results: Rs10242455 (OR = 0.56, 95% CI: 0.34–0.93, p = 0.024) was associated with a reduced IS susceptibility, while rs2070672 (OR = 1.40, 95% CI: 1.12–1.75, p = 0.003) and rs2515641 (OR = 1.29, 95% CI: 1.01–1.64, p = 0.041) with an increased IS occurrence. Rs2070672 was observed to correlate with IS risk (OR = 4.06, p = 0.038) at age > 64 years, and rs10242455 (OR = 0.45, p = 0.021) and rs2070672 (OR = 3.28, p = 0.024) affected IS risk in males. In addition, rs10242455 (OR = 1.72, p = 0.014) was significantly associated with hypertension in IS patients.Conclusion: Our study firstly found that rs10242455 in ZSCAN25, rs2070672 and rs2515641 in CYP2E1 were associated with the occurrence of IS in a Chinese Han population.

2020 ◽  
Author(s):  
Haozheng Yuan ◽  
Pei Fan ◽  
Li Yao ◽  
Yuying Lv ◽  
Haidong Wei ◽  
...  

Abstract Background We aimed to explore the relationship between ZSCAN25 and CYP2E1 polymorphisms and Ischemic stroke (IS) susceptibility among a Chinese Han population. Methods We enrolled 477 patients with IS and 480 age- and sex- matched health controls. Genotyping of the ZSCAN25 rs10242455, CYP2E1 rs2070672 and rs2515641 were performed by Agena MassARRAY platform. Odds ratio (OR) and 95% confidence interval (CI) were calculated by logistic regression analysis. Results Rs10242455 (OR = 0.56, 95% CI: 0.34–0.93, p = 0.024) was associated with a reduced IS susceptibility, while rs2070672 (OR = 1.40, 95% CI: 1.12–1.75, p = 0.003) and rs2515641 (OR = 1.29, 95% CI: 1.01–1.64, p = 0.041) with an increased IS occurrence. Rs2070672 was observed to correlate with IS risk (OR = 4.06, p = 0.038) at age > 64 years, and rs10242455 (OR = 0.45, p = 0.021) and rs2070672 (OR = 3.28, p = 0.024) affected IS risk in males. In addition, rs10242455 (OR = 1.72, p = 0.014) was significantly associated with hypertension in IS patients. Conclusion Our study firstly found that rs10242455 in ZSCAN25, rs2070672 and rs2515641 in CYP2E1 were associated with the occurrence of IS in a Chinese Han population.


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.


2020 ◽  
Author(s):  
Bing bing Chen ◽  
Xian-E Peng ◽  
Jianhui Yan ◽  
Hewei Peng ◽  
Xiaoling Cai ◽  
...  

Abstract Background: A recent genome-wide copy number variations (CNVs) scan identified a 16q12.2 deletion that included the carboxylesterase 1 (CES1) gene, which is important in the metabolism of fatty acids and cholesterol. We aimed to investigate whether CES1 CNVs was associated with susceptibility to non-alcoholic fatty liver disease (NAFLD) in a Chinese Han population. Methods: A case-control study was conducted among 303 patients diagnosed with NAFLD and 303 age (± 5) and sex-matched controls from the Affiliated Nanping First Hospital of Fujian Medical University in China. The copy numbers of CES1 were measured using TaqMan quantitative real-time polymerase chain reaction (qPCR) and serum CES1 was measured using enzyme-linked immunosorbent assays. The Chi-squared test and a logistic regression model were used to evaluate the association between CES1 CNVs and NAFLD susceptibility. Results: The distribution of CES1 CNVs showed a higher frequency of CNVs loss (< 2) among patients; however, the difference was not significant (P = 0.05). After controlling for other known or suspected risk factors for NAFLD, CES1 CNVs loss was significantly associated with greater risk of NAFLD (adjusted OR = 2.75, 95% CI: 1.30–5.85, P = 0.01); while CES1 CNVs gain (>2) was not. There was a suggestion of an association between increased CES1 serum protein levels and CNVs losses among cases, although this was not statistically significant (P=0.07). Conclusions: Copy number losses (< 2) of CES1 contribute to susceptibility to NAFLD in the Chinese Han population.


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