Analysis of variant rs3794087 in SLC1A2 and Parkinson’s disease in a Chinese Han population: A case-control study and meta-analysis

2018 ◽  
Vol 666 ◽  
pp. 165-168 ◽  
Author(s):  
Yuan Cheng ◽  
Cheng-yuan Mao ◽  
Yu-tao Liu ◽  
Fang Li ◽  
Jing Yang ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Case Control Study ◽  
Meta Analysis ◽  
Case Control ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Control Study

scholarly journals Rs2015 Polymorphism in miRNA Target Site of Sirtuin2 Gene Is Associated with the Risk of Parkinson’s Disease in Chinese Han Population

2019 ◽  
Vol 2019 ◽  
pp. 1-8
Author(s):  
Xiongjin Chen ◽  
Hui Mai ◽  
Xiaoting Chen ◽  
Yujie Cai ◽  
Qiufei Cheng ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Case Control Study ◽  
Mrna Level ◽  
Case Control ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Functional Assays ◽  
Control Study

Accumulating evidence reveals that the sirtuin family is involved in the pathology of Parkinson’s disease (PD). However, the association between the polymorphisms of the sirtuin gene and the risk of PD remains elusive. Here, we investigated the possible association of nine SIRT1 and SIRT2 SNPs with the risk of PD through a clinical case-control study from the Chinese Han population. Our results showed that rs12778366 in the promoter region of SIRT1 and rs2015 in the 3′untranslated region (3′UTR) of the SIRT2 were significantly associated with the risk of PD. Five SNPs related to SIRT1, rs3740051, rs7895833, rs7069102, rs2273773, and rs4746720 and two SNPs related to SIRT2, rs10410544, and rs45592833 did not show an association with PD risk in this study. Moreover, we found that mRNA level of SIRT2 was upregulated, and mRNA level of SIRT1 was downregulated in the peripheral blood of PD patients compared with healthy controls, and we also observed that SNPs rs12778366 and rs2015 influenced the SIRT1 and SIRT2 expression levels, respectively. Further functional assays suggest that rs2015 may affect the expression of SIRT2 by affecting the binding of miR-8061 to the 3′UTR of SIRT2, ultimately contributing to the risk of PD.

scholarly journals Association of the COQ2 V393A Variant with Parkinson's Disease: A Case-Control Study and Meta-Analysis

PLoS ONE ◽  
2015 ◽  
Vol 10 (6) ◽  
pp. e0130970 ◽  
Author(s):  
Xinglong Yang ◽  
Jing Xi ◽  
Quanzhen Zhao ◽  
Hua Jia ◽  
Ran An ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Case Control Study ◽  
Meta Analysis ◽  
Case Control ◽  
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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