一种经过验证的限制性内切酶 ddPCR cg05575921（AHRR）检测法，可准确评估吸烟暴露情况。
A validated restriction enzyme ddPCR cg05575921 (AHRR) assay to accurately assess smoking exposure.
机构信息
Department of Molecular Medicine & Pathology, The University of Auckland, Auckland, New Zealand.
Maurice Wilkins Centre of Research Excellence, Auckland, New Zealand.
出版信息
Clin Epigenetics. 2024 Mar 25;16(1):45. doi: 10.1186/s13148-024-01659-1.
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 (r = 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.
背景与方法
本研究设计了一种新型的基于限制性内切酶（RE）消化的液滴数字聚合酶链反应（ddPCR）检测方法，用于 AHRR 基因体中的 cg005575921，并将其与亚硫酸氢盐转化（BIS）ddPCR 和 Illumina DNA 甲基化阵列的匹配结果进行比较。
结果
RE-ddPCR cg05575921 检测方法与 BIS-ddPCR 具有一致性（r=0.94，P<0.0001），与 Illumina 阵列相比，其对当前吸烟者与从不吸烟者（AUC 0.96 与 0.93，P<0.04）和当前吸烟者与戒烟者（AUC 0.88 与 0.83，P<0.04）的分类性能明显更好。
结论
RE-ddPCR cg05575921 检测方法可准确预测吸烟状态，有望成为“精准医学”慢性病风险筛查工具的有用组成部分。
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