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

doi:10.3969/j.issn.1006-7795.2023.01.003

摘要/Abstract

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。

关键词: 羧酸酯酶, 基因多态性, 基因表达量, 体质量指数

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.

Key words: carboxylesterase, gene polymorphism, gene expression level, body mass index

中图分类号:

R394

张健雄, 李丹丹, 胡梦梦, 程雪微, 董瑞华. 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.

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.

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