Please use this identifier to cite or link to this item: http://hdl.handle.net/2381/39447
Title: Relative Telomere Repeat Mass in Buccal and Leukocyte-Derived DNA.
Authors: Finnicum, Casey T.
Dolan, Conor V.
Willemsen, Gonneke
Weber, Zachary M.
Petersen, Jason L.
Beck, Jeffrey J.
Codd, Veryan
Boomsma, Dorret I.
Davies, Gareth E.
Ehli, Erik A.
First Published: 26-Jan-2017
Publisher: Public Library of Science
Citation: PLoS One, 2017, 12 (1), e0170765.
Abstract: Telomere length has garnered interest due to the potential role it may play as a biomarker for the cellular aging process. Telomere measurements obtained from blood-derived DNA are often used in epidemiological studies. However, the invasive nature of blood draws severely limits sample collection, particularly with children. Buccal cells are commonly sampled for DNA isolation and thus may present a non-invasive alternative for telomere measurement. Buccal and leukocyte derived DNA obtained from samples collected at the same time period were analyzed for telomere repeat mass (TRM). TRM was measured in buccal-derived DNA samples from individuals for whom previous TRM data from blood samples existed. TRM measurement was performed by qPCR and was normalized to the single copy 36B4 gene relative to a reference DNA sample (K562). Correlations between TRM from blood and buccal DNA were obtained and also between the same blood DNA samples measured in separate laboratories. Using the classical twin design, TRM heritability was estimated (N = 1892, MZ = 1044, DZ = 775). Buccal samples measured for TRM showed a significant correlation with the blood-1 (R = 0.39, p < 0.01) and blood-2 (R = 0.36, p < 0.01) samples. Sex and age effects were observed within the buccal samples as is the norm within blood-derived DNA. The buccal, blood-1, and blood-2 measurements generated heritability estimates of 23.3%, 47.6% and 22.2%, respectively. Buccal derived DNA provides a valid source for the determination of TRM, paving the way for non-invasive projects, such as longitudinal studies in children.
DOI Link: 10.1371/journal.pone.0170765
eISSN: 1932-6203
Links: http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0170765
http://hdl.handle.net/2381/39447
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © the authors, 2017. This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Description: The Netherlands Twin Register has a data access committee that reviews data requests and will make data available to interested researchers. The data come from extended twin families and pedigree structures with twins, which create privacy concerns. Researchers may contact prof DI Boomsma (di.boomsma@vu.nl).
Appears in Collections:Published Articles, Dept. of Cardiovascular Sciences

Files in This Item:
File Description SizeFormat 
journal.pone.0170765.pdfPublished (publisher PDF)1.26 MBAdobe PDFView/Open


Items in LRA are protected by copyright, with all rights reserved, unless otherwise indicated.