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AHRR methylation predicts smoking status and smoking intensity in both saliva and blood DNA.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics ( IF 2.8 ) Pub Date : 2019-08-27 , DOI: 10.1002/ajmg.b.32760
Robert Philibert 1, 2 , Meeshanthini Dogan 1, 3 , Steven R H Beach 4 , James A Mills 1 , Jeffrey D Long 1, 5
Affiliation  

Many existing DNA repositories do not have robust characterizations of smoking, while for many currently ongoing studies, the advent of vaping has rendered traditional cotinine-based methods of determining smoking status unreliable. Previously, we have shown that methylation status at cg05575921 in whole blood DNA can reliably predict cigarette consumption. However, whether methylation status in saliva can be used similarly has yet to be established. Herein, we use DNA from 418 biochemically confirmed smokers or nonsmokers to compare and contrast the utility of cg05575921 in classifying and quantifying cigarette smoking. Using whole blood DNA, a model incorporating age, gender, and methylation status had a receiver operating characteristic (ROC) area under the curve (AUC) for predicting smoking status of 0.995 with a nonlinear demethylation response to smoking. Using saliva DNA, the ROC AUC for predicting smoking was 0.971 with the plot of the relationship of DNA methylation to daily cigarette consumption being very similar to that seen for whole blood DNA. The addition of information from another methylation marker designed to correct for cellular heterogeneity improved the AUC for saliva DNA to 0.981. Finally, in 31 subjects who reported quitting smoking 10 or more years previously, cg05575921 methylation was nonsignificantly different from controls. We conclude that DNA methylation status at cg05575921 in DNA from whole blood or saliva predicts smoking status and daily cigarette consumption. We suggest these epigenetic assessments for objectively ascertaining smoking status will find utility in research, clinical, and civil applications.

中文翻译:

AHRR甲基化可预测唾液和血液DNA中的吸烟状况和吸烟强度。

许多现有的DNA储存库都没有吸烟的可靠特征,而对于许多目前正在进行的研究,雾化的出现使得传统的基于可替宁的确定吸烟状况的方法不可靠。以前,我们已经证明全血DNA中cg05575921的甲基化状态可以可靠地预测卷烟消耗量。但是,是否可以类似地使用唾液中的甲基化状态尚待确定。在本文中,我们使用来自418个经过生化确认的吸烟者或不吸烟者的DNA来比较和对比cg05575921在分类和定量吸烟中的效用。使用全血DNA,结合了年龄,性别和甲基化状态的模型在曲线(AUC)下的接收者操作特征(ROC)区域用于预测吸烟状态为0。995对吸烟具有非线性脱甲基反应。使用唾液DNA,预测吸烟的ROC AUC为0.971,DNA甲基化与每日吸烟量之间的关系图与全血DNA的图非常相似。来自另一种旨在纠正细胞异质性的甲基化标记信息的添加使唾液DNA的AUC改善至0.981。最后,在31名报告戒烟10年或更早的受试者中,cg05575921甲基化与对照组无显着差异。我们得出的结论是,全血或唾液中DNA的cg05575921处的DNA甲基化状态可预测吸烟状态和每日吸烟量。我们建议客观确定吸烟状况的这些表观遗传学评估将在研究,临床和民用应用中找到实用性。
更新日期:2019-11-01
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