scholarly journals Polymorphisms in MTHFD1 Gene and Susceptibility to Neural Tube Defects: A Case-Control Study in a Chinese Han Population with Relatively Low Folate Levels

2015 ◽  
Vol 21 ◽  
pp. 2630-2637 ◽  
Author(s):  
Jian Wu ◽  
Yihua Bao ◽  
Xiaolin Lu ◽  
Lihua Wu ◽  
Ting Zhang ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Case Control Study ◽  
Case Control ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Control Study

Copy number variation in the carboxylesterase 1 gene and the risk of non-alcoholic fatty liver in a Chinese Han population-a case control study

2020 ◽  
Author(s):  
Bing bing Chen ◽  
Xian-E Peng ◽  
Jianhui Yan ◽  
Hewei Peng ◽  
Xiaoling Cai ◽  
...  
Keyword(s):  
Fatty Liver ◽  
Copy Number ◽  
Case Control Study ◽  
Case Control ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Alcoholic Fatty Liver ◽  
Han Population ◽  
Carboxylesterase 1 ◽  
Control Study

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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