scholarly journals A Case-Control Study of Relevance Between NOS2 rs2297518 Polymorphism with Preeclampsia Risk in the Chinese Han women

Author(s):  
Jingli Wang ◽  
Chengcheng Guan ◽  
Huabin Hou ◽  
Xinguo Peng ◽  
Yun Liu ◽  
...  

Abstract Backgroud: Inducible Nitric Oxide Synthase (iNOS) acts on the contraction and expansion of blood vessels by mediating the synthesis of Nitric Oxide (NO), which is implicated in the pathophysiology of preeclampsia (PE) associated with systemic vasoconstriction. The polymorphism of NOS2, the gene of coding iNOS, can affect the function of protein. Therefore, we aimed to explore whether the polymorphism site rs2297518 in NOS2 is associated with susceptibility of PE in a Chinese Han population. Methods and Results:Genotyping the NOS2 rs2297518 polymorphism through TaqMan real-time fluorescence quantitative polymerase chain reaction (PCR) after DNA extraction from blood samples in this case-control study including 979 PE patients and 1187 healthy pregnant women. Using independent sample t-test and chi-square test to analyse clinical data and experimental results. We performed the odds ratios (ORs) and 95% confidence intervals (CIs) to estimate the degree of the association.There was no statistical significance in the genetic distributions for the polymorphism of rs2297518 between the PE and control groups (c2=1.43, p=0.49 by genotype frequency, c2=0.85, p=0.36, odds ratio=1.07, 95% confidence interval 0.92-1.25 by allele frequency), and no differences among early/late-onset or mild/severe PE and controls was seen. Conclusion: Our results indicated that the NOS2 rs2297518 polymorphism may be not play a major role in the susceptibility to PE in the Chinese Han population. Therefore, it is essential to test other polymorphisms of this gene to validate a potential relationship for susceptibility to PE.

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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