| 羧酸酯酶1和羧酸酯酶2基因表达量与体质量指数的关系及其基因多态性分析 |
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| 引用本文： | 羧酸酯酶和羧酸酯酶基因表达量与体质量指数的关系及其基因多态性分析. 羧酸酯酶1和羧酸酯酶2基因表达量与体质量指数的关系及其基因多态性分析[J]. 首都医科大学学报, 2023, 44(1): 13-19. DOI: 10.3969/j.issn.1006-7795.2023.01.003 |
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| 作者姓名： | 羧酸酯酶和羧酸酯酶基因表达量与体质量指数的关系及其基因多态性分析 |
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| 作者单位： | 1.首都医科大学附属北京友谊医院研究型病房,北京 100050;2.解放军总医院血液病医学部临床药理学研究室, 北京 100071 |
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| 基金项目： | 国家卫生健康委员会重大新药创制专项(2018ZX09711003-014-001), 首都医科大学附属北京友谊医院科研启动基金(yyqdkt2019-34)。 |
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| 摘 要： | 目的 通过检测健康志愿者的羧酸酯酶1 (carboxylesterase 1,CES1)和羧酸酯酶2 (carboxylesterase 2,CES2)的基因多态性和基因表达水平，探索CES1和CES2在代谢中的作用。方法 从48例健康志愿者获得血样并提取DNA,对DNA进行二代基因测序，并提取总RNA检测基因表达量。使用多元线性回归分析CES1和CES2基因表达量与性别、年龄、体质量指数(body mass index, BMI)的关系。结果 CES1的基因表达量为141.8(72.7,237.8),CES2的基因表达量为74.4(30.8,133.6)。多元线性回归分析中，BMI与CES2的基因表达有关，性别、年龄和BMI与CES1的基因表达无关。发现CES1 20个基因变异，其中10个会引起氨基酸序列改变；发现CES2 6个基因变异，其中2个引起氨基酸序列改变。结论 发现CES2的表达水平与BMI相关，CES1的表达水平与BMI无明显相关，基因预测结果提示CES1的遗传变异可能影响其功能表达。
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| 关 键 词： | 羧酸酯酶 基因多态性 基因表达量 体质量指数 |
| 收稿时间： | 2022-10-18 |
Relationship between carboxylesterase 1 and carboxylesterase 2 gene expression levels and body mass index,and gene polymorphism analysis |
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| Zhang Jianxiong,Li Dandan,Hu Mengmeng,Cheng Xuewei,Dong Ruihua. Relationship between carboxylesterase 1 and carboxylesterase 2 gene expression levels and body mass index,and gene polymorphism analysis[J]. Journal of Capital Medical University, 2023, 44(1): 13-19. DOI: 10.3969/j.issn.1006-7795.2023.01.003 |
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| Authors: | Zhang Jianxiong Li Dandan Hu Mengmeng Cheng Xuewei Dong Ruihua |
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| Affiliation: | 1. Research Ward, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China;2. Clinical Pharmacology Laboratory, Affiliated Hospital Academy of Military Medical Sciences, Beijing 100071, China |
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| Abstract: | Objective To explore the role of carboxylesterase 1(CES1) and carboxylesterase 2 (CES2) in metabolism by detecting gene polymorphisms and gene expression levels ofCES1 and CES2 in healthy volunteers. Methods The DNA was extracted from peripheral blood lymphocytes of 48 volunteers with written consent, and total genomic DNA was sequenced using a target sequencing strategy. The total RNA was extracted to determine gene expression levels. The multiple linear regression was used to analyze the relationship between CES1 and CES2 gene expression and sex, age and body mass index (BMI). Results The expression level of CES1 and CES2 was 141.8 (72.7, 237.8) and 74.4 (30.8, 133.6), respectively. The multiple linear regression analyses indicated that BMI (β = －28.83, P=0.048) had a significant effect on the expression level of CES2. Age, sex, or BMI were not associated with the expression level of CES1. The sequence variants were identified, and 10 of a total of 20 sequence variants of CES1 caused a change in the CES1 amino acid sequence and two of a total of six sequence variants of CES2 caused a change in the CES2 amino acid sequence. Conclusion In this study, we found that the expression level of CES2 was correlated with BMI, while the expression level of CES1 was not significantly correlated with BMI. The results of gene prediction suggested that the genetic variation of CES1 might affect its functional expression. |
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| Keywords: | carboxylesterase gene polymorphism gene expression level body mass index |
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