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.
Highlights
Telomere measurments have been of great interest as a potential tool for assessment of the cellular aging process
Due to the negligible invasiveness of buccal DNA sampling, future studies may be designed that may span a long period of time; including telomere repeat mass (TRM) measurement at birth
Utilizing blood and buccal-derived DNA collected from 1892 participants, mostly twins, we were able to investigate the relationship between DNA derived from different cellular sources, as well as investigate the genetic and environmental components associated with TRM
Summary
Telomere measurments have been of great interest as a potential tool for assessment of the cellular aging process. Buccal and Leukocyte-Derived Telomere Repeat Mass telomeric region has been lost, the cell enters a state of replicative senescence characterized by a marked change in gene expression, as well as the inability to further divide [2, 3]. The observation of telomere attrition in proliferating cells, as well as the immortality conveyed via telomerase activation, suggests that telomeres act as a central biological clock mechanism [10]. This is compounded by studies highlighting an association between TL and life span in humans [11,12,13,14,15]
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