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

Sandra Fitzgerald; Basharat Bhat; Cristin Print; Gregory T Jones

doi:10.1186/s13148-024-01659-1

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

Journal article

Open access

Peer reviewed

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

Sandra Fitzgerald, Basharat Bhat, Cristin Print and Gregory T Jones

Clinical epigenetics, Vol.16(1), pp.45-45

25/03/2024

DOI: https://doi.org/10.1186/s13148-024-01659-1

Handle:

https://hdl.handle.net/10523/37910

Appears in Healthier Lives National Science Challenge

Abstract

Basic Helix-Loop-Helix Transcription Factors - genetics

DNA Methylation - genetics

Humans

Polymerase Chain Reaction - methods

Repressor Proteins - genetics

Smoking - adverse effects

Smoking - genetics

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. 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. 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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Record Identifier: 9926530371401891
Title: A validated restriction enzyme ddPCR cg05575921 (AHRR) assay to accurately assess smoking exposure
Creators: Sandra Fitzgerald
Basharat Bhat
Cristin Print
Gregory T Jones
Publication Details: Clinical epigenetics, Vol.16(1), pp.45-45
Academic Unit: Surgery and Critical Care (DSM); Healthier Lives - He Oranga Hauora National Science Challenge
Grant note: This work was supported by grants from the Healthier Lives, National Science Challenge, the Health Research Council of New Zealand (14/155, 17/402, 20/144) and Genomics Aotearoa (a New Zealand Ministry of Business, Innovation and Employment funded research platform). SF is supported by the Cancer Research Trust John Gavin Fellowship.
Date published ; e-published: 25/03/2024
Copyright: Copyright © The Author(s) 2024. This work was first published in Clinical Epigenetics (BMC). This is an open access article is distributed under the terms of the Creative Commons Attribution 4.0 License (http://www.creativecommons.org/licenses/by/4.0/) which permits unrestricted use, reproduction and distribution of the work in any medium provided the original work is properly attributed to the creator(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
Language: English
Resource Type ; Subtype: Journal article