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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 被引量:1

Relationship between carboxylesterase 1 and carboxylesterase 2 gene expression levels and body mass index,and gene polymorphism analysis
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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CES120个基因变异,其中10个会引起氨基酸序列改变;发现CES26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。 Objective To explore the role of carboxylesterase 1(CES1)and carboxylesterase 2(CES2)in metabolism by detecting gene polymorphisms and gene expression levels of CES1 and CES 2 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 CES 1 and CES 2 gene expression and sex,age and body mass index(BMI).Results The expression level of CES 1 and CES 2 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 CES 2.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 CES 1 caused a change in the CES1 amino acid sequence and two of a total of six sequence variants of CES 2 caused a change in the CES 2 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.
作者 张健雄 李丹丹 胡梦梦 程雪微 董瑞华 Zhang Jianxiong;Li Dandan;Hu Mengmeng;Cheng Xuewei;Dong Ruihua(Research Ward,Beijing Friendship Hospital,Capital Medical University,Beijing 100050,China;Clinical Pharmacology Laboratory,Affiliated Hospital Academy of Military Medical Sciences,Beijing 100071,China)
出处 《首都医科大学学报》 CAS 北大核心 2023年第1期13-19,共7页 Journal of Capital Medical University
基金 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)。
关键词 羧酸酯酶 基因多态性 基因表达量 体质量指数 carboxylesterase gene polymorphism gene expression level body mass index
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