A validated restriction enzyme ddPCR cg05575921 (AHRR) assay to accurately assess smoking exposure.

IF 4.4 2区 医学 Q1 GENETICS & HEREDITY Clinical Epigenetics Pub Date : 2024-03-25 DOI:10.1186/s13148-024-01659-1
Sandra Fitzgerald, Basharat Bhat, Cristin Print, Gregory T Jones
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Abstract

Background & methods: In this study, a novel restriction enzyme (RE) digestion-based droplet digital polymerase chain reaction (ddPCR) assay was designed for cg005575921 within the AHRR gene body and compared with matching results obtained by bisulfite conversion (BIS) ddPCR and Illumina DNA methylation array.

Results: The RE ddPCR cg05575921 assay appeared concordant with BIS ddPCR (r2 = 0.94, P < 0.0001) and, when compared with the Illumina array, had significantly better smoking status classification performance for current versus never smoked (AUC 0.96 versus 0.93, P < 0.04) and current versus ex-smoker (AUC 0.88 versus 0.83, P < 0.04) comparisons.

Conclusions: The RE ddPCR cg05575921 assay accurately predicts smoking status and could be a useful component of 'precision-medicine' chronic disease risk screening tools.

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经过验证的限制性酶 ddPCR cg05575921 (AHRR) 检测法可准确评估吸烟暴露。
背景与方法:本研究针对 AHRR 基因体中的 cg005575921 设计了一种新型的基于限制性酶(RE)消化的液滴数字聚合酶链反应(ddPCR)检测方法,并将其与亚硫酸氢盐转换(BIS)ddPCR 和 Illumina DNA 甲基化阵列的匹配结果进行了比较:结果:RE ddPCR cg05575921 检测与 BIS ddPCR 检测结果一致(r2 = 0.94,P 结论:RE ddPCR cg05575921 检测结果与 BIS ddPCR 检测结果一致:RE ddPCR cg05575921 检测能准确预测吸烟状况,可作为 "精准医疗 "慢性病风险筛查工具的有用组成部分。
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来源期刊
自引率
5.30%
发文量
150
期刊介绍: Clinical Epigenetics, the official journal of the Clinical Epigenetics Society, is an open access, peer-reviewed journal that encompasses all aspects of epigenetic principles and mechanisms in relation to human disease, diagnosis and therapy. Clinical trials and research in disease model organisms are particularly welcome.
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